Pediatric Ophthalmology

• Ocular and Visual Development
• Infants with poor vision responses
• Eyelid Disorders
• Infectious and Allergic disorders
• Lacrimal System
• Orbital Diseases
• Craniofacial Disorders
• Conjunctival Disease
• Cornea and Anterior Segment Disease
• Glaucoma
• Lens Abnormalities
• Microphthalmos
• Optic Nerve disorders
• Phakomatoses
• Refractive Errors
• Retinal & Vitreous Disease
• Systemic diseases with Ocular involvement
• Strabismus
• Tumors in Pediatric Patients
• Uveitis

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Ocular and Visual Development

• Corneal Diameters
• Dyslexia
• Globe size and Axial Length
• Refractive Errors
• Interocular measurements
• Intraocular pressures
• Extraocular muscles (compared with adults)
• Retinal Maturation
• Visual acuity & field development
• Visual Development Milestones
• Neurodevelopmental Milestones

Corneal Diameters

• Horizontal corneal diameter in full term infants: 9.8mm
• Normal range: 9.0 mm to 11.0 mm
• Average Adult corneal diameter: 11.7mm (reached by age 7)

Globe size and Axial Length

• Neonatal axial eye length: 16 mm
• Normal adult axial axial length: 23 mm
• Majority of increase in axial length occurs in first 18 months
• Infantile growth phase (2-5 years) 1.1 mm
• Juvenile phase: (5-13 years) 1.3 mm
• Average K's for newborn cornea: 47.6 diopters

Refractive Errors

• Most (75%) full term infants are hyperopic: average +0.62 diopters
• Increasing hyperopia until age 7 then trend towards myopia until adulthood
• 50% of children of myopic parents become myopic
• 8-10% of healthy children of emmetropes become myopic
• Prematurity, albinism, chorideremia, gyrate atrophy and retinitis pigmentosa are associated with myopia
• In infants: 71% have "against-the-rule" astigmatism, 21% have "with-the-rule"
• At age 6: most children with astigmatism have "with-the-rule"

Interocular Measurements

OPC: outer canthal distance, IPD: interpalpebral distance, ICD: inner canthal distance, PFL: palpebral fissure length

Intraocular Pressures

• Normal infant IOP: 8-12 mm Hg. IOP gradually increases with age

Extraocular Muscles- corneal limbal distance in infant and adult eye

Retinal Maturation

• Retinal vasculature evident by 4th month of gestation
• Nasal perephery vasculature complete 8th month
• Temporal retina may not become vascularized until few weeks postpartum
• Cone density increased in the first four years of life with corresponding improvement in visual acuity

Visual acuity & field development

• At birth Va 20/400 to 20/800 range
• By age 4 months: 20/200 range
• By age 18-30 months: 20/20 is reached
• Newborn monocular, horizontal visual field 28 degrees
• By 6 months of age, visual field approaches adult size

Normal Visual Development Milestones- times when response is well developed

• Pupillary light reaction- 30 weeks gestation
• Blink response to threat- 2-5 months
• Fixation- 2 months
• Smooth pursuit- 6-8 weeks
• Saccades (not hypometric)- 1-3 months
• Optokinetic nystagmus- present at birth with restricted slow phase velocity, temporal to nasal better than nasal to temporal until 2-4 months
• Accommodation appropriate to target- 4 months
• Stereopsis - 3-7 months
• Contrast sensitivity- 7 months
• Ocular alignment stabilized- 1 month
• Foveal maturation complete- 4 months
• Optic nerve mylenation complete- 7 months to 2 years

Neurodevelopmental Milestones

Behavioral Event	Age
Has sucking, rooting, swallowing reflexes	Neonatal
Lifts head in sitting position	4 mo
Rolls over	6 mo
Sits up	9–10 mo
Crawls	10–11 mo
Walks unassisted	12–15 mo
Walks up and down stairs holding on	18 mo
Can stand on one foot	3 yr

Dyslexia

• Definition: primary reading deficit resulting in reduced ability to read and extract meaning from written material
• No single accepted definition
• Many write poorly and show characteristic letter reversals
• Overlap with ADHD (attention deficit hyperactivity disorder)
• 5-10% of children have some form of reading disability
• A familial tendency has been recognized
• Ophthalmologist's role is to document a normal eye exam and refer to a neuropsychologist (evaluation of cognitive processing) or education specialist

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Evaluation of the Infant with Poor vision responses

• Nystagmus in first 3 months of life DDx
• Achromatopsia
• Congenital Stationary Night Blindness
• Leber's Congenital Amaurosis
• Retinitis Pigmentosa (early X-linked and autosomal recessive)

Nystagmus in First 3 months of life: Differential Diagnosis

• Congenital Idiopathic Nystagmus
• Retinal sensory abnormality
• Foveal hypoplasia: albinism, aniridia, rod monochromatism
• Achromatopsia
• Leber congenital amaurosis
• Congenital stationary night blindness
• Optic nerve
• Hypoplasia: endocrine evaluation
• Coloboma
• Atrophy
• Vitreous
• Norrie disease
• Familial exudative vitreoretinopathy
• Infectious diseases
• Toxoplasmosis
• Cytomegalovirus
• Rubella
• Syphilis
• Media opacities
• High Myopia
• In association with a CNS disorder: Aicardi syndrome

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Eyelid Disorders

• Congenital Disorders
• Ptosis
• Eyelid lesions

Congenital Eyelid Disorders

• Ankyloblepharon
• Blepharophymosis Syndrome
• Coloboma
• Cryptophthalmos
• Distichiasis
• Ectropion
• Entropion
• Epiblepharon
• Epicanthus
• Euryblepharon

Cryptophalmos

• Rare condition where eyelids remain fused, usually with abnormal globe development
• Wide variation in severity
• May be unilateral or bilateral
• Autosomal recessive in some families
• Brow usually absent and low hairline
• Fraser syndrome- cryptophthalmos with syndactly
• Good visual outcomes are uncommon

Ankyloblepharon

• Complete or partial fusion of eyelids but globe is not affected
• Ankyloblepharon filiform adnatum- fine skin tags connect the eyelids

Euryblepharon

• Lateral canthus situated too far inferiorly causing widening of lateral palpebral fissure
• Sporadic or Autosomal Dominant
• Typically bilateral and symmetrical
• Treatment: lateral canthoplasty and possible skin grafting to augment lower lid

Epiblepharon

• Inward turning of lashes caused by poor attachment of the inferior eyelid retractors to the skin
• Poorly formed inferior lid crease
• Usually no damage to the cornea
• Anatomic relationship between globe and lid normalizes as face matures
• If corneal damage does occur: excision of a strip of skin +/- obicularis
• Can also pass deep sutures to attach lower lid retractors to the skin
• Common in Asian children

Ectropion

• Outward turning of lower eyelid
• Uncommon as an isolated congenital abnormality
• Usually a result of trauma, infection or ichthyosis
• Treatment: full thickness skin graft

Entropion- Congential

• Inward turning of eyelid caused by an abnormal tarsus.
• Lids may turn in with enophthalmos or microphthalmos
• Corneal damage more likely with entropion than epiblepharon

Epicanthus

• Fold of skin over medial canthus running between the eyelids
• frequently creates the appearance of esotropia = pseudoesotropia
• Epicanthus palpebralis: skin folds involve upper and lower lids equally, most common
• Epicanthus tarsalis: skin folds more prominent in the upper lids
• Epicanthus inversus: skin folds more prominent in the lower lids, can be part of the blepharophimosis syndrome
• becomes less prominent as the nose matures

Blepharophimosis syndrome

• Congenital, Autosomal Dominant condition with four features:
1. vertical and horizontal narrowing of eyelid fissures
2. ptosis
3. telecanthus
4. epicanthus inversus

• Levator function is usually poor
• Upper eyelid creases are usually absent
• Treat with frontalis suspension early in life with likely revision later

Distichiasis

• Accessory row of eyelashes arises from or near meibomian gland orifices
• Usually lashes do not bother cornea
• If there is corneal damage, remove lashes by surgical excision or cryoepilation

Coloboma

• Congenial, full-thickness defects in eyelids (can occur in globe as well)
• Most often in the medial upper lid
• Sporatic or in association with a syndrome
• Goldenhar's syndrome- upper lid most common
• Treacher-Collins syndrome- lateral lower eyelid most common

Ptosis- these are the most common causes

• Congenital Ptosis
• Marcus Gunn Jaw-winking
• Oculomotor Palsy
• Horner's Syndrome

Marcus Gunn Jaw-winking

• Occurs in 5-10% of all those with congenital ptosis
• Congential abnormal stimulation of the levator muscle with movement of the internal or external pterygoid muscles
• The ipsilateral eyelid is usually ptotic
• External pterygoid: opening mouth or moving jaw side to side
• Internal pterygoid: clenching teeth
• May be caused by in utero insult causing synkinesis.
• Occasionally bilateral
• Treatment: Frontalis sling with disinsertion of levator muscle

Oculomotor Palsies

• Congenital Oculomotor Palsy
• Isolated ptosis from third nerve palsy is unusually rare
• A majority are from birth trauma with our without forceps delivery
• Partial or complete recovery is likely in this setting
• Aberrant reinnervation is common
• Cyclic oculomotor palsy: congenital palsy with spontaneous 10-30 second episodes of improved function lasting for 1-3 minutes.
• Aquired Oculomotor Palsy in Childhood
• Usually the result of a viral illness or migrane syndrome
• Rarely aneurysms occur in children
• Non-isolated cases occur in trauma, meningitis, and with neoplasms
• Third nerve palsies in adults

Eyelid Lesions

• Molluscum Contagiosum
• Viral papillomata
• Chalasia
• Pigmented lesions
• Nevus of Ota (Oculodermal melanocytosis)
• Neurofibromas
• Dermoids
• Capillary Hemangiomas

Molluscum Contagiosum

• Common in children
• Poxvirus cause small, umbilicated nodules often along the eyelid margin
• Histopathology: intracytoplasmic hyaline moluscum bodies
• Viral particles are shed causing a chronic follicular conjunctivitis
• Treatment: curettage and diathermy of all lesions on the body.

Viral papillomata

• Warts caused by human papilloma virus (DNA virus)
• Infect mucous membranes and can arise from the eyelid margin
• Treatment is shave biopsy

Nevus of Ota (Oculodermal melanocytosis)

• Congenital hyperpigmentation fo the episclera, uvea and skin
• Affects the areas served by the first and second division of the trigeminal nerve
• The orbit and meningies may also be involved
• Bilateral in 10%
• Increased numbers of normal melanocytes
• Asians and African-Americans are more commonly affected
• Eye involvement alone: Ocular melanocytosis
• Increased risk of melanoma (1:400) and glaucoma

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Infectious and Allergic Ocular Disorders

• Allergic disease
• Cellulitis
• Conjunctivitis
• Infections- intrauterine and perinatal (TORCH)
• Kawasaki syndrome
• Ophthalmia neonatorum
• Stevens-Johnson syndrome

Intrauterine and perinatal infections (TORCH)

• Toxoplasmosis
• Other: Syphilis, varicella, HIV, parvovirus B19
• Rubella
• Cytomegalic virus
• Herpes simplex virus

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Lacrimal System

• Nasolacrimal Duct Obstruction
• Congential Dacrocystocele
• Congential Punctal Atresia
• Lacrimal Sac Fistula
• Alacrima
• Riley-Day Syndrome
• Ectopic Lacrimal Gland

Nasolacrimal Duct Obstruction (NLDO)

• Up to 6% of babies have evidence of NLDO
• Persistence of membrane at the distal valve of Hasner
• Baseline lacrimation increases at 2-3 weeks of life making NLDO evident at this time
• Mucopurulent discharge with chronic or intermittant infections
• Worsening of discharge with upper respiratory infections
• Can be misdiagnosed as conjunctivitis
• Rarely can become a dacryocystitis and can progress to a preseptal cellulitis
• Natural history: 90% spontaneously resolve.
• Treatment: lacrimal sac massage (Crigler massage) once or more per day.
• Topical antibiotics as necessary
• NLD probing: timing is controversial.
• Sedated NLD probing gives more control.
• Silicone intubation for one or two failed probings, children older than 18-24 months, if bony stenosis is encountered during probing, or in craniofacial disorders.
• Tubes left in place for 3-6 months.
• The knot can be rotated out the puncta before cutting and removal.

Congenital Dacryocystocele

• Blue, cyst-like mass below the medial canthal tendon in a newborn
• Ddx: meningoencephalocele, hemangioma, dermoid cyst
• Caused by a combination of a lower NLD obstruction plus a blockage at the valve of Rosenmuller.
• Mucoid material is trapped and can become infected.
• Only a small percentage will spontaneously resolve.
• Treatment: digital massage and topical antibiotic is first line.
• NLD probing is often required. Repeated probings are often required within days to weeks if swelling does not resolve.
• Once probing is done, dacryocystitis and cellulitis can appear requiring systemic antibiotic treatment.
• Fistula to skin can form if excision and drainage performed

Congenital punctal atresia

• Often there is a membrane or dimple in region of canuliculus.
• A sharp probe or pin can be used to create an opening to the canaliculus which can be probed and stents placed.

Lacrimal Sac Fistula

• Congenital epithelial lined tract between the skin and the lacrimal sac.
• Tears seen at opening implies obstruction of the lower system.
• Lower obstruction should be addressed with probing and stents if necessary before repairing the fistula.

Riley-Day syndrome

• Familial dysautonomia
• Affects Ashkenazi Jews
• Decreased lacrimation or alacrima
• generalized autonomic disfunction

Alacrima

• Congenital absence of tear production
• Rarely related to failure of lacrimal gland to form
• Causes
• Riley-Day Syndrome
• Orbital and ocular developmental disorders
• Ectodermal dysplasia
• Isolated form

Ectopic Lacrimal Gland

• Lacrimal tissue may be found in the eyelids, conjunctiva, cornea or uvea.
• This tissue may become neoplastic.
• Usually becomes cystic.

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Proptosis and Orbital Disease in Children

• Capillary Hemangioma
• Cellulitis, preseptal & orbital
• Craniofacial Disorders
• Dermoid Cyst
• Fibrous Dysplasia
• Graves Disease
• Langerhans' Cell Histiocytosis
• Leukemia
• Lymphangioma
• Neuroblastoma
• Neurofibroma
• Pseudotumor
• Rhabdomyosarcoma
• Optic glioma

Preseptal Cellulitis

• Exam:
• Mild to severe eyelid edema and erythema
• Mild systemic signs
• Full ocular motility
• Normal pupil function
• No proptosis
• Organisms:
• Most common: Strep pneumoniae via the sinuses.
• Others: Staph aureus and Strep pyrogenes in the setting of skin trauma or as a secondary infection as in HSV.
• Staph aureus and Strep pneumoniae are most common in neonates.
• Older children: Strep pneumoniae, Haemophilus influenzae and Moraxella catarrhalis.
• H. influenzae type b (spread from bacterema) is now rare due to vaccination.
• Laboratory testing:
• gram stain and culture of skin infection.
• Complete blood count,
• blood cultures
• CT of orbits and sinuses.
• Work up becomes more appropriate for the younger patients and more severe disease.
• Systemic evaluation for fever, meningeal signs, adenopathy might be best obtained by their pediatrician or family physician.
• Treatment:
• Skin organisms suspected and mild case: dicloxicillin, cefaclor, augmentin.
• Severe cases requiring hospitilization: nafcillin and gentamicin (vancomycin & gentamycin for penicillin allergy).

Fibrous Dysplasia of the Orbit

• Idopathic, slowly progressive unilateral proptosis and globe displacement
• Onset before age 10 and progresses through adolescence and early adulthood

Langerhans' Cell Histiocytosis

Leukemia

Neurofibroma

Neuroblastoma

Craniofacial Disorders

Goldenhar Syndrome

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Conjunctival Disease

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Cornea and Anterior Segment Disease

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Microphthalmos

• Colobomatous Microphthalmos
• Noncolobomatous Microphthalmos
• Congenital malformation where volume of the eye is reduced
• Eye size can range from anophthalmos to only mild size reduction
• Nanophthalmos: microphthalmia with normal intraocular structures
• Axial eye length less than 20mm
• Prevalence: 0.22 per 1,000 live births in US, 11% in Japan 1980 survey.
• Vision loss varies from non total blindness
• Many sporatic cases with no known etiology
• General work-up: careful history, genetic pedegree, physical examination, examination of family members, interdisciplinary approach is most helpful. Chromosomal analysis if any associated dysmorphic features or developmental delay.
• If no specific syndrome found: recurrence risk for the parents of an affected child is ~2%, if one parent is affected ~14%
• Treatment: Lensectomy if necessary, uveal effusions are not responsive to surgery but can sometimes be improved with systemic steroids. Corrective lenses and low vision aids. Scleral shell to improve appearance.

Colobomatous Microphthalmos

• Colobomas result from incomplete closure of the fetal fissure which occurs at week 6 of gestation.
• Isolated ocular malformations
• Multisystem Syndromes

Colobomatous Microphthalmos- Isolated ocular malformations

• Autosomal Dominant
• Autosomal Recessive

Isolated Colobomatous Microphthalmos- AD

• Variable expressivity: normals may possess the gene
• Small iris or choroidal coloboma to clinical anophthamos to orbital cyst
• 50% chance of tranmitting the gene to offspring but less likely offspring will have the condition
• Estimate that there is a 8.6% chance of an affected child of a normal parent in a family with this condition

Isolated Colobomatous Microphthalmos- AR

• Evidence is poor in the literature for this type of inheritance
• One Japanese study had 12% with autosomal recessive microphthalmos
• Fujiki K, Nakajima A, Yasuda N, et al: Genetic analysis of microphthamos. Ophthalmol Paediatr Genet 1:139,1982.

Colobomatous Microphthalmos- Multisystem Syndromes

• Autosomal Dominant
• Autosomal Recesive
• X-linked
• Unknown Etiology
• Environmental Etiologies
• Chromosomal Aberrations

Colobomatous Microphthalmos- Multisystem Syndromes: AD

• Basal Cell Nevus syndrome
• Congenital contractural arachnodactyly

Basal Cell Nevus Syndrome

• Multiple basal cell carcinomas; usually appear in childhood
• Dyskeratotic cysts of jaw, rib and spinal anomalies
• Pits of hands and feet
• Variable mental retardation
• Multiple ocular abnormalities:
• Carcinomas of the eyelids
• Colobomatous microphthalmos
• Congenital cataract
• Strabismus
• Meduloblastomas in infancy: less common
• Variable expressivity
• Diagnosis made if two major features present

Congenital Contractural Arachnodactyly

• Marfanoid body habitus (tall)
• Multiple congenital joint contractures
• Uveal colobomas and microphthalmia
• But NOT ectopia lentis

Colobomatous Microphthalmos- Multisystem Syndromes: AR

• Meckel-Gruber syndrome
• Sjögren-Larsson syndrome
• Humeroradial synostosis

Mickel-Gruber syndrome

• Microcephaly, occipital encephalocele
• Congenital heart defects
• Polydactyly
• Facial Clefts
• Polycystic disease of liver, kidneys and pancreas
• Colobomatous microphthalmos (can occur without colobomas) in 15%
• Phenotypically similar to Trisomy 13
• Usually fatal within days to weeks of birth

Sjögren-Larsson syndrome

• Mental Retardation
• Colobomatous Microphthalmos
• No other systemic abnormalities

Humeroradial synostosis

• Reduced or absent flexion and extension at the elbow
• Microcephaly, occipital meningocele
• Colobomatous microophthalmos
• Inheritance pattern suggested but not confirmed

Colobomatous Microphthalmos- Multisystem Syndromes: XL

• Lenz microphthalmos syndrome
• Focal dermal hypoplasia

Lenz microphthalmos syndrome

• X-linked recessive inheritance: only males are affected
• Microphthalmos with or without colobomas is fundamental to diagnosis
• Short stature, cylindrical thorax
• Mental retardation, microcephaly
• asymmetric or dysmorphic ears
• Dental anomalies
• Renal agenesis or hypospadias reported
• Congenital cataracts, clinical anophthalmos also reported
• Ocular manifestations appear consistant within families

Focal Dermal hypoplasia

• X-linked dominant, Most are female
• Linear regions of dermal atrophy that become progressively hyperpigmented
• Mucous membrane papillomas
• Syndactly, polydactly or oligodactyly
• Colobomatous microphthalmos prominent feature

Colobomatous Microphthalmic Syndromes- Etiology Unknown

• CHARGE association
• Epidermal nevus syndrome
• Rubinstein-Taybi syndrome

CHARGE association

• Colobomatous microphthalmos
• Heart defects
• choanal Atresia
• Retarded growth
• Genital anomalies
• Ear anomalies or deafness
• Three of above necessary for diagnosis
• Cardiac defects are varied and may be lethal
• Rule out: Trisomy 13, 18, the 4p- syndrome and the Cat's-eye syndrome (all chromosomal syndromes identifiable by karyotyping)

Epidermal Nevus syndrome (linear sebaceous nevus syndrome, nevous sebaceous of Jadassohn)

• Linear epidermal nevi- yellowish lesion with abundant sebaceous glands and immature hair follicles. Midline face lesion common.
• Convulsions and developmental delay in some
• At puberty, development of papillomatous epidermal hyperplasia with possible malignant tranformation later
• Rarely associated colobomatous microphthalmos

Rubinstein-Taybi syndrome

• Characteristic broad thumbs and great toes
• Mental and growth retardation
• Broad nasal bridge, prominent forehead and beaked nose.
• Rarely associated colobomatous microphthalmos

Colobomatous Microphthalmic Syndromes- Enviromental Causes

• Thalidomide may cause ocular malformation
• Phocomelia may cause ocular malformation
• Vitamin A deficency in utero: supported in animal studies

Colobamatous Microphthalmic Syndromes- Chromosomal aberrations

• Triploidy
• Trisomies
• Trisomy 13
• Trisomy 18
• Duplications
• 4q+, 7q+, 9p+, 9p+q+, 13q+, 22q+
• Deletions
• 4p-, 4r, Dq-, Dr, 11q-, 13q-, 13r-, 18q-, 18r
• Many of these syndromes are non-specific. Chromosomal studies are indicated with any child who had microphthalmos with other systemic dysmorphic features or developmental delay.

Noncolobomatous Microphthalmos

• Autosomal Dominant- isolated
• Autosomal Recessive- isolated
• X-linked- isolated
• Autosomal Domainant- multisystem
• Autosomal Recessive- multisystem
• X-linked- multisystem
• Chromosomal aberrations
• Unknown etiology
• Environmental Causes

Noncolobomatous Microphthalmos- Isolated: AD

• Microphthalmos without coloboma rarely occurs in isolation
• Some families have been reported with variable expressitivity

Noncolobomatous Microphthalmos- Isolated: AR

• Reported with microcornea and normal corneas
• High hyperopia
• More likely to get uveal effusions or angle closure glaucoma
• Regular follow-up necessary
• Unique heritable entities:
• Microphthalmos with congenital retinal detachment
• Microphthalmos with congenital cataract

Noncolobomatous Microphthalmos- Isolated: XL

• X-linked microphthalmos with cataract
• Perhaps similar to Lenz's syndrome

Noncolobomatous Microphthalmos- Multisystem: AD

• Microphthalmos with cataracts and developmental delay

Noncolobomatous Microphthalmos- Multisystem: AR

• Microphthalmos and developmental delay in consanguineous marriages
• Warburg described: congenital hydocephalus (obstructive or not), severe mental retardation, microphthalmos and congenital retinal detachment
• Microphthalmos and congenital falciform retinal folds associated with microcephaly
• Fanconi's syndrome
• Diamond-Blackfan syndrome

Fanconi's syndrome

• Severe macrocystic anemia and pancytopenia
• Increased skin pigmentation
• Short stature
• Mental retardation
• Skeletal abnormalities
• Tendancy toward malignancies
• Microphthalmos associated

Diamond-Blackfan syndrome

• Congenital hypoplastic anemia with normal granulocytes and platelets
• Microphthalmos associated

Noncolobomatous Microphthalmos- Multisystem: XL

• Microcephaly and microphthalmos with other ocular abnormalities
• Less severe in females
• Males have falciform retinal folds and retinal pigmentary changes

Noncolobomatous Microphthalmos- Chromosomal aberrations

• 10q+ and the B ring syndromes
• Most chromosomal aberrations cause colobomas with microphthalmos

Noncolobomatous Microphthalmos- Unknown etiology

• Cryptophthalmos: absence of eyelids, lashes, brows and fusion of skin of forhead and face is associated with micophthalmos (may be autosomal recessive in some cases)
• Hallermann-Streiff syndrome
• Persistent Hyperplastic Primary Vitreous

Hallermann-Streiff syndrome

• Birdlike faces
• Dental anomalities
• Hypotrichosis
• Congenital cataracts
• Microphthalmos- frequent
• Congenital glaucoma
• Normal intelligence

Noncolobomatous Microphthalmos- Environmental Causes

• Intruterine infections:
• Cytomegalovirus
• Epstein-Barr virus
• Varicella
• Herpes virus
• Maternal fever during pregnancy: controversal (animal studies)
• Prenatal radiation: controversial (animal studies)
• Folic acid deficiencies (animal studies)
• Nickel carbonyl exposure (animal studies)
• Intrauterine band syndrome: pressure on eyelid can cause eyelid coloboma and or microphthalmos

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Lens Abnormalities

• Aphakia, congenital
• Ectopia Lentis
• Lenticonus
• Pediatric Cataracts
• Spherophakia

Pediatric Cataracts

• Etiology
• Types
• Evaluation/Work-up
• Management
• Prognosis

Pediatric Cataracts- Etiology

• Congenital Cataracts
• frequently have other systemic or ocular abnormalities
• If bilateral: 33% inherited, 33% result of another distorder, 33% undetermined
• Irreversable ambylopia common, especially in unilateral or asymmetic cases
• Red reflex test- any opacity >3mm is likely visually significant
• Complete cataracts may present as leukocoria
• Nystagmus develops from early visual deprivation and is poor prognostic sign
• Strabismus may be the presenting sign
• Syndromes with associated cataracts (bilateral)
• Abetalipoproteinemia
• Alport syndrome (anterior lenticonus)
• Apert syndrome (lamellar)
• Atopic dermatitis (anterior subcapsular)
• Bloch-Sulzberger syndrome
• Cockayne's syndrome
• Congenital anhidrotic ectodermal dysplasia (lamellar, complete)
• Congenital ichthyosis
• Conradi syndrome (nuclear, anterior subcapsular)
• Crouzon syndrome (lamellar)
• Fabry disease (Zonular/sutural)
• Hallermann-Streiff syndrome
• Laurence-Moon-Biedl syndrome (lamellar)
• Lowe syndrome
• Marfan syndrome (dislocated)
• Marinesco-Sjogren syndrome (zonular)
• Myotonic dystrophy ("christmas tree",anterior/posterior subcapsular)
• Rothmund-Thompson syndrome (lamellar, complete)
• Schafer syndrome
• Trisomy 13,14,15, 18 (variable), 21(snowflake, punctate)
• Turner syndrome (complete)
• Weil-Marchesani syndrome (dislocated, variable, spherophakia)
• Metabolic diseases with cataracts (bilateral)
• Diabetes Mellitus (anterior/posterior subcapsular)
• Galactosemia (zonular)
• Homocystinuria (dislocated, zonular)
• Hypoglycemia (zonular)
• Hypoparathyroidism
• Mannosidosis
• Maternal infections (usually bilateral)
• Rubella (nuclear, complete)
• Cytomegalovirus
• Varicella
• Syphilis
• Toxoplasmosis
• Ocular abnormalities with associated cataracts (usually bilateral)
• Aniridia
• Anterior segment dysgenesis
• Toxic (may be unilateral or bilateral)
• Chlorpromazine
• Copper
• Corticosteroids
• Dinitropenol
• Iron
• Mer-21 triparanol
• Naphthalene
• Radiation
• Para-dichlorobenzene
• Unilateral Cataracts, primarily
• Persistant hyperplastic primary vitreous
• Posterior lenticonus
• Posterior pole tumors
• Trauma

Pediatric Cataracts- Types

• Congenital, primarily
• Nuclear (Type of zonular cataract)
• dense axial opacities of 3mm or more
• mild to moderate microphthalmos associated
• often bilateral, involving the fetal or embryonal nucleus
• often autosomal dominant inheritance, can be autosomal recessive or x-linked
• good prognosis only if surgery done early

• Stellate/Sutural
• Involve the Y sutures if intrauterine development
• More stellate shape if develop later
• Usually good prognosis, many don't need surgery
• Coronary (type of zonular cataract)
• Peripheral cortical opacities
• Appearance of a crown looking from the top
• Autodominant inheritance
• Associated with Down Syndrome and Myotonic dystrophy
• Surgery usually not necessary due to peripheral location of opacities
• Cerulean
• Small, blue cortical opacities
• Not visually significant and non-progressive
• often present in association with other types of cataracts
• Anterior polar
• usually not progressive, most less than 1-2 mm, good prognosis
• Associated with Peter's anomaly

• PHPV (congenital and progressive)
• microphthalmos associated
• secondary glaucoma common
• variable prognosis, depending upon earliness of surgery and degree of posterior segment involvement

• Acquired, primarily
• Anterior/posterior subcapsular
• similar appearance to adult types
• Lamellar (Type of zonular cataract)
• layers of opacification peripheral to the Y-sutures
• clear nucleus
• often inherited and progressive
• normal sized eyes
• usually >5mm in diameter
• good prognosis

• Posterior lenticonus (congenital posterior capsule defect that develops cataract later)
• bulging out of posterior capsule
• cataract can be slowly or rapidly progressive
• normal size eye
• excellent prognosis

Pediatric Cataracts- Work-up

• General considerations
• Evaluation based on cataract location
• Evaluation based on cataract morphology
• Step-wise approach to cataract etiologies

Pediatric Cataract Work-up- General Consideration

• Family history
• Ophthalmic exam
• Vision
• Handheld slit lamp exam, noting cornea, iris and pupil
• Corneal diameter
• Anterior chamber depth
• Rule out glaucoma (rubella, Lowe syndrome, PHPV), intraocular pressure
• B-Scan ultrasound if no view of posterior pole: rule out mass, retinal detachment, optic nerve stalk to lens
• Systemic
• Consider systemic evaluation in bilateral complete or progressive cataracts, congenital complete cataract or dislocated lenses
• Unilateral cataracts are not likely to be due to a metabolic or genetic disease, consider TORCH titer (IgM and/or IgG)
• VDRL
• Others: urine for amino acids, urine for reducing substances (after milk feeding) or galactosemia panel, red cell galactokinase level, blood calcium and phosphorus,
• Pediatric genetic evaluation

Pediatric Cataract work-up based on cataract location

• Anterior polar
• Association: Peter's anomaly
• No work up
• Posterior polar: no work up
• Posterior lenticonus: no work up
• Anterior lenticonus: associated with Alport syndrome
• Anterior subcapsular
• Associations: Conradi's syndrome
• Work up: X-ray of epiphyses of long bones (stippled epiphyses)
• Posterior subcapsular
• Associations: Diabetes mellitus, corticosteroids, radiation, Refsum's disease, JIA, Retinitis pigmentosa
• Work up: Fasting blood sugar, Hb A1c, Serum phytanic acid (Refsum's dz), ANA/RF or Peds Rheumatology consult, ERG
• Nuclear
• Associations: Rubella, Varicella
• Work up: TORCH titer or neonatal and materal rubella IgM antibody, ELISA for varicella serum antibody

Reference: Biglan AW, Pediatric Cataract Surgery in Ophthalmic Surgery: Principles and Techniques, Alberts DA ed. pp.970-1014

Pediatric Cataract work-up based on cataract morphology

• Lamellar
• Association: Neonatal tetany, hypoparathyroidism
• Work up: serum calcium, phosphorus and parathormone levels
• Oil droplet
• Association: Galactosemia from Galactose 1-phosphate uridylyltransferase deficency or Galactokinase deficency
• Work up:  Test urine for reducing substances (Clinitest) can be screening test, RBC galactose 1-phosphate transferase level, RBC galactokinase activity
• Complete
• Associations: Congenital rubella, CMV
• Work up: rubella IgM and IgG in neonate and mother, TORCH titers, urine culture for CMV
• Spoke like
• Association: Fabry's disease
• Work up: leukocyte α-galactosidase A activity deficient, accumulation of ceramide trihexosidase in fibroblasts
• Punctate
• Association: Down Syndrome
• Work up: chromosome analysis
• Multicolored flecks
• Associations: myotonic dystrophy, atopic dermatitis
• Work up: Serum creatine phosphokinase, electromyography
• Sunflower
• Association: Wilson disease
• Work up: Increased serum copper, decreased serum ceruloplasim, elevated 24 hour urinary copper
• Dislocated lens
• Associations; Marfan's disease (up and out), Homocystinuria (down and in, Weil-Marchesani (spherophakia), Sulfite oxidase deficency, Hyperlysinemia
• Work up: Echocardiogram (Marfan's); Increased plasma homocystine and methionine, urine nitroprusside test (homocystinuria); Increased urine S, sulfo cysteine, taurine sulfite and thiosulfate (sulfite oxidase deficency); Elevated plasma lysine (hyperlysemia);

Reference: Biglan AW, Pediatric Cataract Surgery in Ophthalmic Surgery: Principles and Techniques, Alberts DA ed. pp.970-1014

Pediatric Cataracts- Stepwise approach to determining etiology of Congential Cataracts

• Preform History and Physical Examination to Determine if one of the following present
• Multiple Congenital Anomalities
• Isolated Ocular Abnormalities
• One organ system abnormality
• No other abnormalities

• Congenital Cataracts and Multiple Congenital Anomalites present
• Do Chromosome Analysis to screen for the following:
• Trisomy 18
• Trisomy 21
• Turner Syndrome
• Edward Syndrome
• Partial Trisomy 10q
• Translocations: 3:4, 2:14, 2:16
• Cri du Chat syndrome (5q-)
• If Cromosome Analysis Normal consider:
• Hallerman-Strieff syndrome: dental anomalities
• Schprintzen syndrome: cardiac anomalities
• Cerebral-oculo-facial syndrome: microcephaly
• Cockayne syndrome: microcephaly
• Fetal rubella syndrome: microcephaly
• Marinesco-Sjögren syndrome: microcephaly
• Rubenstein-Taybi syndrome: microcephaly
• Smith-Lemli-Opitz syndrome: microcephaly
• Walker-Warburg syndrome: hydrocephalus
• Zellweger syndrome: long-chain fatty acids

• Congential Cataracts and Isolated Ocular Abnormalities
• Aniridia
• Retinoblastoma
• PHPV
• Uveitis

• Congenital Cataracts and one organ system abnormality
• Short stature or limb abnormalities
• Muscle
• Myotonic dystrophy: Muscle wasting
• Aniridia and Wilms Tumor
• Hearing disorder
• Refsum disease
• Alport syndrome
• Dental abnormalities
• Canine radicomegaly
• Nance-Horan syndrome (X-linked)
• Oculo-dental digital syndrome
• Skin abnormalities
• Focal dermal hypoplasia
• Gorlin syndrome
• Incontinentia Pigmenti
• Rothmund-Thompson syndrome
• Fabry disease
• Nail dystrophy
• Clouston syndrome (hidrotic ectodermal dysplasia)
• normal sweat and sebaceous gland function
• total alopecia
• evere dystrophy of the nails
• hyperpigmentation of the skin especially over the joints
• normal teeth
• strabismus
• mental deficiency
• clubbing of the fingers
• palmar hyperkeratosis
• extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States
• OMIM #129500
• Nail-Patella syndrome
• dysplasia of the nails
• absent or hypoplastic patellae (60-90%)
• abnormality of the elbows interfering with pronation and supination (60-90%)
• nephropathy
• hearing loss
• keratoconus
• glaucoma, microcornea, microphakia
• OMIM #161200
• Pachyonychia congenita syndrome
• onychogryposis
• hyperkeratosis of the palms, soles, knees and elbows
• tiny cutaneous horns in many areas
• eukoplakia of the oral mucous membranes
• Hyperhidrosis of the hands and feet
• OMIM #167200

• Congenital Cataracts with short stature/limb abnormalities
• Do skeletal survey to determine:
• Short limbed dwarfism
• Camarati-Englemann syndrome
• Chondrodysplasia punctata
• Hypochondrodysplasia
• Kniest syndrome
• Bony changes
• Fetal warfarin exposure
• Mannosidosis
• Marshall-Stickler syndrome
• Schwartz-Jampel syndrome
• Limb anomalities
• Fetal Varicella infection
• Klippel-Trenaunay-Weber syndrome
• Proteus syndrome
• Roberts syndrome

• Congenital Cataracts without any other abnormality
• Do metabolic screen for the following:
• RBC Galactokinase level: galactosemia
• TORCH titer (IgG and consider IgM) , especially rubella
• VDRL
• If metabolic screen normal: isolated cataracts

Pediatric Cataracts- Management

• Pars Plana Incision for Pars Plana Capsulotomy/Vitrectomy (Limbus to sclerotomy distance)
• Age 0-6 months:  1.5 mm
• Age 6-12 months: 2.0 mm
• Age 1-2 years: 2.5 mm
• Age 2-3 years: 3.0 mm
• Age 3 + years: 3.5 mm

§ Lemley CA, Han DP. An Age-Based Method for Planning Sclerotomy Placement During Pediatric Vitrectomy: A 12-Year Experience. Retina, 2007; 27(7); 974-77.

Pediatric Cataracts- Prognosis

• Unilataral congenital cataract
• Nystagmus

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Refractive Errors

• Guidelines for Prescribing glasses for young children
• Myopia
• Syndromes Associated with Myopia
• Hyperopia
• Syndromes Associated with Hyperopia
• Astigmatism

Guidelines for Prescibing Eyeglasses to Young Children (preferred practice pattern AAO)

Prescribing for Isometropia
Prescribing for Anisometropia

• Prescribing for Isometropia
• Myopia: consider giving glasses if:
• Age 0-2 yrs and -4.00 or more
• Age 2-3 yrs and -3.00 or more
• Hyperopia: consider giving glasses if
• No Esotropia present (may reduce the prescribed amount by +1.00 to +3.00)
• Age 0-1 yrs and +6.00 or more
• Age 1-2 yrs and +5.00 or more
• Age 2-3 yrs and +4.50 or more
• Esotropia present (give full cycloplegic amount, don't reduce by more than +0.50)
• Age 0-2 yrs and +2.00 or more
• Age 2-3 yrs and +1.50 or more
• Astigmatism: consider giving glasses if:
• Age 0-1 yrs and 3.00 or more
• Age 1-2 yrs and 2.50 or more
• Age 2-3 yrs and 2.00 or more
• Prescribing for Anisometropia
• Myopia: consider giving glasses if
• Age 0-2 yrs and ocular difference is -2.50 or more
• Age 2-3 yrs and ocular difference is -2.00 or more
• Hyperopia: consider giving glasses if
• Age 0-1 yrs and ocular difference is +2.50 or more
• Age 1-2 yrs and ocular difference is +2.00 or more
• Age 2-3 yrs and ocular difference is +1.50 or more
• Astigmatism: consider giving glasses if
• Age 0-1 yrs and ocular difference is 2.50 or more
• Age 1-3 yrs and ocular difference is 2.00 or more
• Oblique astigmatism 1.00 or more (defined as >15 degrees from 90 or 180 axis)

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Uveitis In Children

• Uveitis in Children- Ddx
• Anterior Uveitis in Children- Ddx
• Arthritis and uveitis in childhood- differential diagnosis
• Juvenile Idiopathic Arthritis- (Formerly JRA)

Uveitis in Children- DDx (Tugal, Foster)

· 42% Juvenile Idiopathic Arthritis

· 22% Idiopathic

· 15% Pars planitis

· 21% Others

· Toxoplasmosis/ Toxocara,

· Sarcoid

· ARN

· Kawasaki's

· SLE

· Varicella

· HLA-B27

· Bechet's

· Fuch's heterochromic iridocyclitis

Causes of Anterior Uveitis in Children

• JIA (formerly JRA)
• Trauma
• Lyme dz
• Kawasaki's dz
• syphilis
• Whipple's dz
• HIV
• sarcoid
• ulcerative colitis
• Bechet's dz
• infantile onset miltisystem inflammatory dz
• juvenile Reiter's syndrome.

Arthritis and Uveitis in Childhood- Ddx

• Ankylosing spondylitis in older boys
• HLA-B27+
• Inflammatory Bowel disease
• Juvenile Idiopathic Arthritis
• Psoriatic arthritis
• Reiter Syndrome
• Sarcoidosis

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Juvenile Idiopathic Arthritis (Formerly Juvenile Rheumatoid Arthritis)

Usually asymptomatic bilateral uveitis. Leads to cataract, glaucoma, band keratopathy, CME, blindness

• Uveitis
• Cataract
• Band Keratopathy
• Glaucoma
• Differential Diagnosis of arthritis and uveitis
• Screening Schedule for uveitis

JIA- Uveitis

· Screening Schedule Recommendations

· Risk factors: Female, onset age 2-5, pauciarticular type (50% of JIA cases), ANA +, RF negative,correlation with HLA-DR5

· Of Children with the above risk factors, 25% will develop uveitis.

· 90% of those who develop uveitis will do so within 7 years of the onset of arthritis

· Course is independent of joint disease.

· Visual prognosis: (Wolf et al. Ophth 94:1241-1248, 1987) 51 patients, 89 eyes

· 22% Va of 20/200 or worse; 46% cataracts, 30% had band keratopathy or glaucoma

· Worst prognostic sign: posterior synechiae on presentation: 60% developed 20/200 or worse

· Best prognosis: eyes normal on presentation (post. synechiae 12%, band K 5%, cataracts 28%, glaucoma 17%)

· Management: Rid anterior chamber of cells, flare alone is not treated (Foster & Barrett; Opthth. 100:809-817, 1993)

· Prednisolone acetate 1% Q4hr, Dilation to break/prevent synechaie (e.g. Homatropine 5% and phenylephrine 2.5% Qd to Q week). Taper as cells eliminated. Taper can take several months. Patients should be seen at the slit lamp a few days after medication change.

· Sub-Tenon's injection of steroid.

· Oral NSAID treatment with indomethacin or naproxyn (efficacy not proven).

· Systemic pulse steroids maximum 3 months duration.

· Immunosuppressive: methotrexate Q week or others: cyclosporine, chlorambucil, azathioprine coordinate with rheumatology or oncology.

Screening Schedule for Uveitis in JIA (Pediatrics, Vol. 117 No. 5 May 2006, pp. 1843-1845)

Oligo or polyarthritis ANA +

• Onset age less than or = 6 years
• Duration of disease:
• less than or = 4 years: High risk, Exam Q 3 months
• > 4 years: Moderate risk, Exam Q 6 months
• >7 years: Low risk, Exam Q 12 months
• Onset age > 6 years:
• Duration of disease:
• less than or = 4 years: Moderate risk, Exam Q 6 months
• > 4 years: Low Risk, Exam Q 12 months

Oligo or polyarthritis ANA -

· Onset age less than or = 6 years:

· Duration of disease:

· less than or = 4 years: Moderate risk, Exam Q 6 months

· > 4 years: Low Risk, Exam Q 12 months

· Onset age > 6 years: Low Risk, Exam Q 12 months

Systemic JIA: Low Risk, Exam Q 12 months

JRA- Cataract

• Occurs in up to 50%.
• Intraocular lens implantation can be done but is not recommended by many.
• Key to long term good vision is inflammation control to prevent glaucoma and CME.
• Aphakic contact lenses and Bifocal correction required, ambylopia monitoring.
• Increased risk of glaucoma.

JRA- Band Keratopathy

· Affects up to 30%.

· Calcium in epithelial basement membrane, later Bowman's layer involved and even fragmented.

· Lubricating drops may slow progression since dry eye accelerates.

· Chelation therapy with EDTA

JRA- Glaucoma

• Caused by ineffective trabecular meshwork drainage, pupillary block or aphakic glaucoma.
• Meds: topical beta-blockers, acetazolamide, iopidine are most effective.
• Surgical options: initial procedures include; trabeculectomy with mitomycin C, trabeculectomy with trabeculotomy, primary goniotomy. Secondary procedures; Seton, CPC or endolaser CPC.

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Retinal & Vitreous Diseases

• Albinism
• Coats Disease
• Retinal Maturation
• Retinoblastoma
• Retinopathy of Prematurity

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Retinoblastoma

• Reese-Ellsworth Classification
• ABC Classification
• International Classification (Staging)
• Chemoreduction agents

Reese-Ellsworth Classification for Retinoblastoma

• Group I
1. solitary tumor, < 4 disc diameters in size at or behind the equator
2. multiple tumors, none > 4 disc diameters in size, at or behind the equator
• Group II
1. solitary tumor, 4-10 disc diameters in size, at or behind the equator
2. multiple tumors, 4-10 disc diameters in size, behind the equator
• Group III
1. any lesion anterior to the equator
2. solitary tumor > 10 disc diameters behind the equator
• Group IV
1. multiple tumors, some > 10 disc diameters
2. any lesion extending anteriorly to the ora serrata
• Group V
1. massive tumors involving more than half the retina
2. vitreous seeding

ABC classification for Retinoblastoma

• Group A (small tumors away from the foveola and disc)
• Tumors < 3mm in greatest dimension (~2DD) confined to the retina and
• Located at least 3mm from the foveola and 1.5 mm from the optic disc
• Group B (all remaining tumors confined to the retina)
• All other tumors confined to the retina and not in group A
• Subretinal fluid (without subretinal seeding) < 3 mm from the base of the tumor
• Group C (local subretinal fluid or vitreous seeding)
• Subretinal fluid alone > 3mm and <6mm from the tumor
• Vitreous or subretinal seeding <3mm from the tumor
• Group D (diffuse subretinal fluid or seeding)
• Subretinal fluid > 6mm from the tumor
• Vitreous or subretinal seeding > 3 mm from the tumor
• Group E (presence of any one or more of these poor prognostic features)
• More than 2/3 of the globe filled with tumor
• Tumor in the anterior segment or anterior to the vitreous
• Tumor in or on the ciliary body
• Iris neovascularization
• Neovascular Glaucoma
• Opaque media from hemorrhage
• Tumor necrosis with aseptic orbital cellulitis
• Phthisis bulbi

International Classification for Retinoblastoma

• Stage 0:  patients treated conservatively (subject to presurgical ophthalmologic classifications)
• Stage I: Eye enucleated, completely resected histologically
• Stage II: Eye enucleated, microscopic residual tumor
• Stage III: Regional extension
1. Overt orbital disease
2. Preauricular or cervical lymph node extension
• Stage IV: Metastatic disease
1. Hematogenous metastasis
1. single lesion
2. multiple lesions
2. CNS extension
1. Prechiasmatic lesion
2. CNS mass
3. Leptomeningeal disease

Chemoreduction Agents- Retinoblastoma

Absolute Neutraphil Count must be > 1000, platelets > 100K
Repeat every 21 days for 6 episodes
EUA and laser consolidation done on day 1

Day 1

• Vincristine 0.05 mg/kg IV push
• Etoposide 5 mg/kg IV over 2 hours
• Carboplatin 18.6 mg/kg IV over 2 hours

Day 2

• Etoposide 5 mg/kg IV over 2 hours

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Optic Nerve Disorders

• Acquired Optic Atrophy in childhood

Causes of Acquired Optic Atrophy in Childhood

• Craniopharyngioma
• Optic Nerve/Chiasmal Glioma
• Retinal degenerative diseases
• Hydrocephalus
• Optic Neuritis
• Postpapilledema
• Hereditary

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Pediatric Tumors

• Retinoblastoma
• Juvenile xanthogranuloma
• Medulloepithelioma

Juvenile xanthogranuloma

Medulloepithelioma

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Phakomatoses

• Neurofibromatosis (von Recklinghausen dz)
• Tuberous Sclerosis (Bourneville dz)
• Angiomatosis of retina and Cerebellum (von Hippel-Lindau dz)
• Encephalotrigeminal angiomatosis (Sturge-Weber syndrome: in glaucoma notes)
• Incontinentia pigmenti (Bloch-Sulzbeger syndrome)
• Ataxia-telangiectaisa (Louis-Bar syndrome)
• Racemouse Angioma (Wyburn-Mason syndrome)