Syndromes with Ocular Manifestations

Syndrome List (A-Z) (common/important in bold)

A | B | C | D | E | F | G | H | I-J-K | L | M | N | O | P | R | S |T | U-V | W | X-Y-Z

Index of Ocular Findings

A

• Aarskog
• Aase-Smith
• Abetalipoproteinemia
• Ablepharon-Macrostomia
• Abruzzo-Erickson
• Acrocallosal
• Acrocephalopolysyndactyly type 4 (Goodman)
• Acrodephalopolydactylous Dysplasia
• Acrocephaloysyndactyly type 3 (Saethre-Chotzen)
• Acrocephaloysyndactyly type 5 (Pfeiffer)
• Acrodysostosis
• Acrofacial dystosis 1, Nager type (Nager)
• Acro-Fronto-Facio-Nasal Dystosis
• Acromegaloid Facial Appearance
• Acromegaloid Phenotype-Cutis Verticis Gyrata-Corneal Leukoma (Rosenthal-Kloepfer)
• Acromesomelic Dwarfism
•  Acromicric Dysplasia
• Acro-Osteolysis (Hajdu-Cheney, Cheney)
• Acro-Reno-Ocular
• Adams-Oliver
• Aglossia-Adactyly (Oromandibular-Limb hypogenesis spectrum)
• Aicardi
• Alagille (Arteriohepatic Dysplasia)
• Albinism
• Albright Hereditary Osteodystrophy
• Alport
•  Aniridia (see also: Deletion 11p)
• Aniridia-Cerebellar ataxia-Mental deficiency (Gillespie)
• Ankyloblepharon-Ecterdermal Dysplasia-Clefting (Hay-Wells)
• Angelman (Deletion 15q)
• Angio-Osterohypertrophy (Klippel-Trenaunay-Weber)
• Anophthalmia with Limb Anomalities (Waardenburg Anophthalmia)
• Antley-Bixler
• Apert
• Ataxia-Telangiectasia (Louis-Bar Syndrome)
• Axenfeld-Rieger

B

• Baller-Gerold
•  Bannayan-Riley-Smith (Ruvalcaba-Myhre, Riley-Smith)
• Barber-Say
• Bardet-Biedl
• Bassen-Kornzweig disease
•  Beals
• Beckwith-Wiedemann
• Berardinelli-Lipodystrophy
• Berman (Sialolipidosis, Mucolipidosis type IV)
• Bernheimer-Seiteberger disease (Gangliosidosis GM₂ Type III)
• Beta-Glucuronidase deficiency (Sly, Mucolipidosis type VII)
• Bird-Headed Dwarfism (Seckel)
• Blepharophimosis
• Borjeson-Forssman-Lehmann
• Brachmann-de Lange (Cornelia de Lange)
• Branchio-Oculo-Facial

C

• Caffey Pseudo-Hurler (Gangliosidosis GM₁ Type I)
•  Campomelic Dysplasia
• Camurati-Englemann
• Cardiac-Limb (Holt-Oram)
• Cardio-Facio-Cutaneous
• Carpenter
• Cat-Eye (Schmid-Fraccaro)
• Cerebral Giantism (Sotos)
• Cerebro-Oculo-Facio-Skeletal (Pena-Shokeir, Type II)
• Cerebro-Hepato-Renal (Zellweger)
• Cervico-Oculo-Acoustic (Widervanck)
• CHARGE Association
• Cheney (Hajdu-Cheney, Acro-Osteolysis)
• Chondrodysplasia Punctata, AR/X-linked
• Cleft lip Sequence
• Cleidocranial Dystosis
• Clouston
• Cockayne, Type I
• Coffin-Lowry
• Coffin-Siris
• Cohen
• Chrondodystophica myotonia (Schwart-Jampel type 1)
• Cornelia de Lange (Brachmann-de Lange)
• Craniodiaphyseal Dysplasia- Lenz Majewski type (Lenz-Majewski Hyperostotic Dwarfism)
• Craniofrontonasal Dysplasia
• Craniometaphyseal Dysplasia
•  Craniosynostosis
  • Crouzon
  • Jackson-Weiss
• Cri-du-Chat (Deletion 5p)
• Crouzon
• Cryptophthalmos (Frasier)

D

• De Grouchy
• Deletion 2q
• Deletion 3p
• Deletion 4p (Wolf-Hirschhorn)
• Deletion 4q
• Deletion 5p (Cri-du-Chat)
• Deletion 9p
• Deletion 11p (WAGR syndrome)
• Deletion 11q (Jacobsen)
• Deletion 13q
• Deletion 15q maternal (Angelman)
• Deletion 15q paternal (Prader-Wili)
• Deletion 18p
• Deletion 18q (De Grouchy)
• De Morsier (Septo-Optic Dysplasia)
• Derry (Gangliosidosis GM₁ Type II)
• Desbuquois (Larsen)
• Digeorge Sequence
• Distal Arthrogryposis Type II
• Distichiasis-Lymphedema
• Donohue (Leprechaunism)
• Down (Trisomy 21)
• Duane/Radial dysplasia
• Dubowitz
• Duplication 3q
• Duplication 4p
• Duplication 9p
• Duplication 10q
• Duplication 15q
• Dyskeratosis Congenita (Zinsser-Cole Engman)

E

• Ectopia Lentis et Pupillae
• Ectodermal dysplasia 1 (Hypohidrotic Ectodermal Dysplasia)
• Ectrodactyly-Ectodermal Dysplasia-Clefting I
• Edwards (Trisomy 18)
• Ehlers-Danlos
• Elejalde  (Acrocephalopolydactylous Dysplasia)
• Encephalofacial Angiomatosis (Sturge-Weber)
• Escobar

F

• Facio-Digito-Genital Dysplasia
• Facio-oculo-auriculo-vertebral dysplasia (Goldenhar)
• Fanconi Pancytopenia
• Femoral Hypoplasia-Unusual Facies
• Fetal Akinesia sequence (Pena-Shokeir type I)
• Fetal Face (Robinow)
• FG (Opitz-Kaveggia)
• Focal dermal hypoplasia (Goltz)
• Fragile X (Martin-Bell)
• François Dyscephalic (Hallerman-Streiff, Oculomandibulodyscephaly)
• Fraser (Cryptophthalmos)
• Freeman-Sheldon (Whistling Face)
• Frontometaphyseal

G

• Gaucher
• Goldenhar
• Gangliosidoses
  • Caffey Pseudo-Hurler (GM₁ Type I, infantile type)
  • Derry disease (GM₁ Type II, juvenile type)
  • Tay-Sachs disease (GM₂ Type I)
  • Sandhoff disease (GM₂ Type II)
  • Bernheimer-Seiteberger disease (GM₂ Type III)
• Geleophysic Dysplasia (Acrofacial dysplasia)
• Genee-Widemann (Miller, Postaxial Acrofacial Dystosis)
• Gillespie (Aniridia-Cerebellar ataxia-Mental deficiency)
• Goldenhar (Facio-oculo-auriculo-vertebral dysplasia)
• Goltz (Focal dermal hypoplasia)
• Goodman (Acrocephalopolysyndactyly Type 4)
• Gorlin (Nevoid basal cell carcinoma)
• Greig Cephalopolysyndactyly

H

• Hajdu-Cheney (Cheney, Acro-Osteolysis)
• Hallermann-Streiff (François Dyscephalic, Oculomandibulodyscephaly)
• Hay-Wells Syndrome of Ectodermal Dysplasia (Ankyloblepharon-Ecterdermal Dysplasia-Clefting)
• Hepatolenticular degeneration (Wilson Disease)
• Holt-Oram (Cardiac-limb)
• Homocystinuria
• Hunter (Mucopolysaccharidosis Type II)
• Hurler (Mucopolysaccharidosis Type I H)
• Hurler-Scheie (Mucopolysaccharidosis Type I H/S)
• Hutchinson-Gilford (Progeria)
• Hypochondroplasia
• Hypohidrotic Ectodermal Dysplasia (Ectodermal Dysplasia 1)
• Hypohidrotic ectodermal dysplasia, autosomal dominant type (Rapp-Hodgkin Ectodermal Dysplasia)
• Hypomelanosis of Ito (Incontiential Pigmentosa Achromians)
• Hypophosphatasia

I-J-K

• Incontientia Pigmenti (Bloch-Sulzberger)
• Incontiential Pigmentosa Achromians (Hypomelanosis of Ito)
• Jackson-Weiss (Craniosynostosis-Foot Defects)
• Jacobsen (Deletion 11q)
• Jarcho-Levin (Spondylothroacic Dysplasia)
• June Thoracic Dystrophy
• Johanson-Blizzard
• Joubert
• Kabuki (Niikawa-Kuroki)
•  Keratitis-Ichthyosis-Deafness (Kid)
• Kid (Keratitis-Ichthyosis-Deafness)
• Killian-Teschler-Nicola (Pallister-Killian)
• Kivlin-Krause (Peters Anomaly with Short-limb dwarfism)
• Klippel-Trenaunay-Weber (Angio-Osterohypertrophy)
• Kniest dysplasia (Metatrophic Dwarfism II)

L

• Lacrimo-Auriculo-Dento-Digital; LADD (Levy-Hollister)
• Langer-Giedion (Tricho-Rhino-Phalangeal)
• Larsen (Desbuquois)
• Leber's Congential Amaurosis
• Lenz-Majewski Hyperostotic Dwarfism (Craniodiaphyseal Dysplasia- Lenz Majewski type)
• Leopard (Multiple Lentigines)
• Leprechaunism (Donohue)
• Leroy I-Cell (Mucolipidosis type II)
• Levy-Hollister (Lacrimo-Auriculo-Dento-Digital; LADD)
• Linear Nevus Sebaceous of Jadassohn
• Lipodystrophy, partial, with Reiger Anomaly, short stature and Insulinopenic Diabetes Mellitus
• Louis Bar (Ataxia Telangectasia)
• Lowe (Oculocerebrorenal)

M

• Marden-Walker
• Marfan
• Marfanoid Craniosynostosis (Shprintzen-Goldberg Craniosynostosis)
• Maroteaux-Lamy (Mucopolysaccharidosis type VI)
• Martin-Bell (Fragile X)
• Marshall
• Marshall-Smith
• Melnick-Needles Osteodysplasty
• Metatrophic Dwarfism II (Kniest Dysplasia)
• Midas (Microphthalmia with Linear Skin Defects)
• Miller (Genee-Widemann, Postaxial Acrofacial Dystosis)
• Miller-Dieker Lissencephaly
• Möbius
• Mohr (OFD Syndrome type II)
• Morquio (Mucopolysaccharidosis type IV)
• Mucolipidoses
  • Sialidosis, Spranger (Mucolipidosis type I, suptypes I,II)
  • Leroy I-Cell (Mucolipidosis type II)
  • Pseudo-Hurler Polydystrophy (Mucolipidosis type III)
  • Sialolipidosis (Berman, Mucolipidosis type IV)
  • Sly (Beta-Glucuronidase deficency, Mucolipidosis type VII)
• Mucopolysaccharidosis (MPS)
  • Hurler (MPS I H)
  • Hurler-Scheie (MPS I H/S)
  • Scheie (MPS I S)
  • Hunter (MPS II)
  • Sanfilippo (MPS III)
  • Morquio Syndrome (MPS IV)
  • Maroteaux-Lamy (MPS VI)
• Mulibrey Nanism (Perheentupa)
• Multiple Lentigines (Leopard)
• Multiple Synostisis (Symphalangism)

N

•  Nager (Acrofacial dystosis 1, Nager Type)
• Neurofibromatosis type I (Von Recklinghausen Disease)
• Neurofibromatosis type II
• Nevoid basal cell carcinoma (Gorlin)
• Niikawa-Kuroki (Kabuki)
• Noonan Syndrome
• Norrie's Disease

O

• Oculocerebrorenal (Lowe)
• Oculodentodigital (Oculodentoosseous dysplasia)
• Oculomandibulodyscephaly (Hallerman-Streiff, François Dyscephalic)
• OFD syndrome Type II (Mohr)
• Opitz type I,II (Opitz-Frias)
• Opitz-Kaveggia (FG)
• Oral-Facial-Digital 1 (OFD)
• Oromandibular-Limb hypogenesis spectrum (Aglossia-Adactyly)
• Osteogeneis Imperfecta type I
• Oto-Palato-Digital type I (Taybi)

P

• Pachyonychia Congenita type I
• Pallister-Hall
• Pallister-Killian (Killian-Teschler-Nicola)
• Patau (Trisomy 13)
• Pena-Shokeir type I (Fetal Akinesia sequence)
• Perheentupa (Mulibrey Nanism)
• Peters Anomaly-isolated
• Peters Anomaly with other ocular defects
•  Peters Anomaly with Short-limb dwarfism (Kivlin-Krause)
• Peters-Plus
• Pfeiffer Type I,II, III (Acrocephaloysyndactyly type 5)
• Poikilodermal Congenitale (Rothmund-Thompson)
• Postaxial Acrofacial Dystosis (Genee-Widemann, Miller)
• Prader-Wili (Deletion 15q)
• Progeria (Hutchinson-Gilford)
• Proteus
• Pseudo-Hurler Polydystrophy (Mucolipidosis type III)

R

• Radial Aplasia-Thrombocytopenia syndrome (TAR)
• Rapp-Hodgkin Ectodermal Dysplasia (Hypohidrotic ectodermal dysplasia, autosomal dominant type)
• Retinoblastoma
• Reiger Type I,II
• Robinow (Fetal Face)
• Rosenthal-Kloepfer Syndrome (Acromegaloid Phenotype-Cutis Verticis Gyrata-Corneal Leukoma)
• Rothmund-Thompson (Poikilodermal Congenitale)
• Rubinstein-Taybi

S

• Saethre-Chotzen (Acrocephaloysyndactyly type 3)
• Sandoff disease (Gangliosidosis GM₂ Type II)
• Sanfilippo (Mucopolysaccharidosis III)
• Scheie (Mucopolysaccharidosis IS)
• Schinzel-Giedion Midface Retraction
• Schwart-Jampel type 1 (Chrondodystophica myotonia)
• Sclerosteosis
• Seckel (Bird-Headed Dwarfism)
• Septo-Optic Dysplasia (De Morsier)
• SHORT
• Shprintzen (Velo-Cardio-Facial)Shprintzen-Goldberg Craniosynostosis (Marfanoid Craniosynostosis)
•  Sialidosis (Spranger, Mucolipidosis type I)
• Sialolipidosis (Berman, Mucolipidosis type IV)
• Simple Ectopia Lentis
• Simpson-Golabi-Behmel
• Sly (Beta-Glucuronidase deficency, Mucolipidosis type VII)
• Smith-Lemli-Opitz type I
• Smith-Magenis
• Sotos (Cerebral Giantism)
• Spondylocarpotarsal Synostosis
• Spondyloepiphyseal Dysplasia Congenita
• Spondyloepiphyseal Dysplasia Tarda
• Spondylothroacic Dysplasia (Jarcho-Levin)
• Spranger (Sialidosis Mucolipidosis type I)
• Stickler
• Sturge-Weber (Encephalofacial Angiomatosis)
• Symphalangism (Multiple Synostisis)

T

• TAR (Radial Aplasia-Thrombocytopenia syndrome)
• Tay-Sachs disease (Gangliosidosis GM₂ Type I)
• Taybi (Oto-Palato-Digital type I)
• Thalassemia
• Treacher-Collins
• Tricho-Rhino-Phalangeal (Langer-Giedion)
• Triploidy Type II
• Trisomy 8 (Warkany)
• Trisomy 9
• Trisomy 13 (Patau)
• Trisomy 18 (Edwards)
• Trisomy 21 (Down)
• Turner (XO)

U-V

• Usher
• Von Hippel-Lindau
• Von Recklinghausen Disease (Neurofibromatosis type I)
• Velo-Cardio-Facial (Shprintzen)

W

• Waardenburg Anophthalmia
• Waardenburg
• WAGR (Deletion 11p)
• Walker-Warburg
• Warkany (Trisomy 8)
• Weaver
• Weill-Marchesani
• Werner
• Whistling Face (Freeman-Sheldon)
• Williams (Williams-Beuren)
• Wilson Disease
• Wolf-Hirschhorn (Deletion 4p)

X-Y-Z

• Xeroderma Pigmentosum
• X-linked Alpha Thalassemia/Mental retardation
• XO (Turner)
•  XXX, XXXX, XXXXX
• XXXY, XXXXY
• Yunis-Varon
• Zellweger (Cerebro-Hepato-Renal)
• Zinsser-Cole Engman (Dyskeratosis congenita)

Aase-Smith Syndrome

Main Features

• Triphalangeal thumbs (finger-like)
• Congenital hypoplastic anemia

Eye Findings

• Downslanting palpebral fissures: euryblepharon, occasionally
• Retinopathy occasionally

Other Findings

• Ventricular septal defect

Etiology

• Most likely autosomal recessive
• 10 cases reported
• Might be the same as Diamond-Blackfan Syndrome

Reference: OMIM 205600

Abetaliproproteinemia (Bassen-Kornzweig disease)

Main Features

• Intestinal fat malabsorption, onset of symptoms 5-15 years of age
• Ataxia, psychomotor retardation, steatorrhea, blurred vision or nyctalopia

Eye Findings

• Nyctalopia and decreased vision
• ERG findings are apparent before retinal changes visible, decreased maximal combined response
• Pigmentary retinal degeneration in 50%, usually develops in early teens
• Retinitis Pigmentosa-like changes in some
• Others have retinitis punctata albescens-like picture
• Macula may be spared
• Vitamin A and E supplementation can improve retinal functioning
• Strabismus
• Nystagmus
• Angioid streaks
• Subretinal neovascularization
• Cataract
• Ptosis

Etiology

• Autosomal Recessive
• Absence of apolipoprotein B synthesis
• Defect of microsomal triglyceride transfer protein of hepatocytes and enterocytes
• Gene locus 4q22-q24

Other Findings

• Fat malabsorbtion with fat vitamin deficencies
• Spinocerebellar degeneration, peripheral neuropathy
• Acanthotic red blood cells, anemia
•  Cardiac dysarrhythmias
• Plasma lipids levels are abnormal: low serum cholesterol and no serum beta lipoprotein

Reference

•  OMIM 200100
• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. pp. 101, 1029

Ablepharon-Macrostomia Syndrome

Main Features

• Macrostomia, absent zygomatic arch, absent eyebrows and eyelids

Eye Findings

• Absent eyebrows and upper and lower eyelids and lashes- (ablepharon or severe microblepharon)
• Corneal exposure with erosions/abrasions necessitating eyelid reconstruction

Etiology

• Autosomal or x-linked recessive
• Few cases
• Failure of lip fusion gives large mouth

Other Findings

• Sparce hair
• Thickened skin
• small ears
• small anteverted nostrils
• finger contractures
• hearing loss
• absent or small nipples
• genital anomalies- ambiguous genetalia
• delayed language development
• over lap with Barber-Say Syndrome

References

• OMIM 200110
• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. pp. 101, 1029

Abruzzo-Erickson Syndrome

Acrocallosal Syndrome

Acrocephalopolysyndactyly Type 4 (Goodman) Syndrome

Acrodephalopolydactylous Dysplasia

Acrodysostosis

Acro-Fronto-Facio-Nasal Dystosis

Acromegaloid Facial Appearance

Acromegaloid Phenotype-Cutis Verticis Gyrata-Corneal Leukoma (Rosenthal-Kloepfer) Syndrome

Acromesomelic Dwarfism

Acromicric Dysplasia

Acro-Osteolysis (Hajdu-Cheney, Cheney) Syndrome

Acro-Reno-Ocular Syndrome

Adams-Oliver Syndrome

Aicardi Syndrome

Main Features

• Classic Triad: 1) Infantile Spasms, 2) Agenesis of the corpus callosum, 3) Chorioretinal lacunae

Eye Findings

• Anterior Segment: Microcornea with or without coloboma
• Posterior Segment: Chorioretinal Lacunae radiating from optic disc most often
• absence of neurosensory retina, attenuated choroid, RPE hyperplasia
• Photoreceptor rosettes and photoreceptor inversions
• Visual prognosis better without lacunae
• Gross motor and language worse if many large lacunae

Etiology

• Xp22 mutation
• X-Linked Dominant
• Lethal in Males

Other Findings

• Neuro: Mental retardation, Characteristic EEG
• ENT: Cleft Lip and Palate
• Skin: Scalp lipomas, cavernous hemangiomas
• Bone: Vertebral and rib abnormalities

Reference

• OMIM 304050
• McMahon RG, Bell RA, Moore GRW, Ludwin SK. Aicardi's Syndrome, A Clinicopathologic Study. Arch Ophthalmol 102; 250-53,1984

Alagille (Arteriohepatic Dysplasia) Syndrome

OMIM #118450

From a study of 22 children with Alagille syndrome and 23 of their parents, Hingorani et al. (1999) concluded that Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of Alagille syndrome, eliminating the need for extensive and invasive investigations. The most common ocular abnormalities in patients were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Ocular abnormalities, including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes, were detected in 1 parent in 36% of cases.

Albinism

Main Features

• Oculocutaneous Albinism (OCA): Hypopigmentation of skin and hair with characteristic eye findings
• Ocular Albinism (OA): Normal skin and hair pigmentation with characteristic eye findings
• See Albinism in Retina notes for more information

Eye Findings

• Refractive error: significant myopia, hyperopia and/or astigmatism
• Motility: Nystagmus, esotropia
• Vision: Variable 20/40-20/200
• Iris: Transillumination defects (from complete lack of pigmentation in OCA1 to variable small defects in OA)
• Fundus: Hypopigmentation, foveal hypoplasia
• Optic nerve function: Abnormal visual evoked potentials (representing abnormally high amount of decussation of ganglion cell fibers)

Etiology : OCA1A (commonly recognized type) occurs in 1/40,000 with 1/100 are carriers, OCA: autosomal recessive, OA: X-linked

• OCA1A: Two TYR gene mutations (11q14-q21) causing no tyrosinase to be produced; no melanin
• OCA1B: Two TYR gene mutations causing at least one copy of a partially active tyrosinase enzyme: less melanin
• OCA2: P gene mutation (15q11.2-q12) hair pigmented but not skin, some iris pigment
• OCA3: TYRP1 gene mutation (9p23) described in those of african descent
• OCA4: MAPT gene mutation (5p) one human case
• Hermansky-Pudlak syndrome: mutation in any of HPS1 (10q23.1), HPS2 (5q13) , HPS3 (3q24), HPS4 (22q11.2-q12.2)
• Chediak-Higashi syndrome: chromosome 1
• OA1: OA1 gene mutations (Xp22): males with normal hair and skin pigment, abnormal melanosome production

Other Findings

• OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), skin melanocytes are present but melanoma rare
• OCA1B: white to very light hair and skin at birth with variable amounts of darkening, pigmented nevi and freckles can develop
• OCA2: Pigmented hair at birth, no generalized skin pigmentation but pigmented nevi and freckles can develop
• Hermansky-Pudlak syndrome: lethal subtype
• Chediak-Higashi syndrome: lethal subtype
• OA1: giant melanosomes on skin biopsy if preformed, defect is in melanosome production, can have late onset sensorineural deafness, female carriers have mosaic pigmentation of peripheral fundus
• OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600,
• OA3: ocular albinism that is autosomal recessive: OMIM: 203310 (6q13-q15) or (15q11.2-q12)
• OA with sensorineural deafness: OMIM: 103470 (11q14-q21, 3p14.1-p12.3) Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene

References

• Duane's Ophthalmology: Traboulsi EI, Green WR, O'Donnell Jr FE,.The eye in Albinism. 1998 CD ROM edition.
• Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 11:193-200,1990
• OMIM: OCA1:203100, OCA2: 203200, OCA3: 203290, OCA4: 606574, Hermansky-Pudlak: 203300, OA1: 300500

Albright Hereditary Osteodystrophy

Alport Syndrome

Main Features

• Nephritis, anterior lenticonus and deafness

Eye Findings

• Posterior polymorphous corneal dystrophy
• Anterior Lenticonus
• Cataracts
• Macular Pigment epitheliopathy- white or yellow flecks in the macula

Etiology

• Mutation in on of type IV collagen genes, Chromosome 2 and X
• X-linked (80%)- COL4A5: OMIM link
• Autosomal Recessive (15%)- COL4A3: OMIM link
• Autosomal Dominant (5%)- COL4A4: OMIM link

Other Findings

• Hearing loss- not congenital, detectable in late childhood, progressive and 80-90% nerve deafness by age 40 in X linked disease
• Hemorrhagic nephritis- microscopic hematuria, 50% get end stage renal disease by age 30 and 90% by age 40

References

• Gene Reviews
• Medline articles from past year

Aniridia-Cerebellar ataxia-Mental deficiency (Gillespie) Syndrome

Ankyloblepharon-Ecterdermal Dysplasia-Clefting (Hay-Wells) Syndrome

Angelman (Deletion 15q) Syndrome

Angio-Osterohypertrophy (Klippel-Trenaunay-Weber) Syndrome

Anophthalmia with Limb Anomalities (Waardenburg Anophthalmia)

Antley-Bixler Syndrome

Apert Syndrome

Ataxia-Telangiectasia Syndrome (Louis-Bar Syndrome)

Barber-Say Syndrome

Reference

• OMIM 209885

Bardet-Biedl Syndrome (Laurence-Moon-Bardet-Biedl Syndrome)

Main Features

Deletion 11p (WAGR Syndrome)

Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome)

Main Features

• Short stature, brachydactyly, shawl scrotum

Eye Findings

• Hypertelorism (90%)
• Ptosis (50%)
• Downslanting palpebral fissures
• Strabismus
• Hyperoptic astigmatism
• latent nystagmus
• blue sclera
• posterior embryotoxin
• corneal enlargement

Etiology

• X-linked recessive, linked to Xp11.21
• Female carriers have minor manifestations
• 100 cases reported

Other Findings

• Broad upper lip, anteverted nostrils
• Osteoconditis dessicans
• Stretchable skin

References

• OMIM 100050, *305400
• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p.1029

FG Syndrome (Opitz-Kaveggia)

Main Features

• Mental deficiency, delayed motor development, short stature, macrocelpahy, prominent forhead, small ears, facial skin wrinkling, sparce hair
• Imperforate anus, broad thumbs and great toes

Eye Findings

• Strabismsus, Hypertelorism, Epicanthus, Downward slanting palpebral fissures, Medial eyebrow flare

Etiology

• X-linked recessive

Other Findings

• Occasionally craniosynostosis

References

• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p.1038
• OMIM: %305450

Gaucher Syndrome

Main Features

• Hepatosplenomegaly, anemia, brusing and bone pain

Eye Findings

• Strabismus
• Oculomotor Apraxia

GM₁ Gangliosidosis Type I (Severe Infantile Type) (Caffey Pseudo-Hurler Syndrome, Familial Neuorvisceral Lipidosis)

Main Features

• Infancy onset Lisosome sphingolidosis
• Hypotonia, seizures, dysmophism, organomegaly

Eye Findings

• Cherry-red spot (50%)
• Nystagmus
• tortuous conjunctival vessels with saccular aneurisms
• papilledema
• optic atrophy
• corneal clouding rare
• high myopia

Etiology

• Defect in GM₁ ß-galactosidase-1- all three isoenzymes are missing (A,B, and C)
• Diagosis confirmed by assay of  ß-galactosidase in peripheral leukocytes
• Prenatal diagnosis on cultured amniotic fluid cells
• Gene map locus: 3p21.33
• Autosomal recessive

Other findings

• Facial and peripherial edema
• Kyposis, joint  limitation, thick wrists, contractures of elbows and knees, claw hand
• Congestive heart failure, hepatosplenomegaly
• Death usually in early infancy (by age 2)

References

• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
• OMIM: +23050

GM₁ Gangliosidosis  Type II (Juvenile Type) (Derry Disease)

Main Features

• Locomotor ataxia usually first sign, followed by progressive psychomotor deterioration and seizures
• Decerebrate and rigid by end of second year of life
• Death by age 3-10 years

Eye Findings

• Nystagmus
• Esotropia
• Cherry Red Spot
• Optic Atrophy

Etiology

• Defect in GM₁ ß-galactosidase-1- missing B and C isoenzymes
• Autosomal recessive
• Gene map locus: 3p21.33

References

• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
• OMIM #23060

GM₂ Gangliosidosis Type I (Tay-Sachs disease)

Main Features

• Child becomes apathetic, hypotonic and sensitive to sound (abnormal startle reflex)
• Progressive neurological deterioration and seizures
• Death usually by 24 to 30 months of age

Eye Findings

• Cherry red spot by 6 months of age- can disappear as ganglion cells die
• Decreased vision by 12-18 months of age
• Nystagmus
• Optic atrophy
• Narrowing of retinal vessels

Etiology

• Hexosaminidaze A isoenzyme deficiency
• Gene map locus: 15q23-q24
• Autosomal recessive
• Carrier 1:300 in non Jews and 1:30-40 in Jews of European extraction in US and Canada
• Incidence 1:4000 in Ashkenazi Jews

References

• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
• OMIM: #272800

Etiology

• Autosomal Recessive
•  First described in 1969, by 1991, 94 patients reported
• More commonly reported in cultures of consanguinity, although distributed worldwide

Other Findings

• Neuro: Mental retardation, ataxia
•   Respiratory: Episodic tachypnea and apnea that improves with age
• Renal: Renal cysts, inflammation, sclerosis, can be deadly
• GI: protruding tongue, tongue tumors, pyloric stenosis, duodenal atresia, hepatic inflammation
•   Bone: Polydactyly

Differentiating Joubert’s from Leber’s Congenital Amaurosis

•  Both have nonrecordable or severely attenuated ERG, but Joubert’s has recordable (less than normal) flash and pattern VEPs
• Joubert’s generally has better Visual acuity

References

• Lambert, et al. Arch Ophth 1989;107:709-713
• Sztriha, et al. Ped Neurol 1999; 20:274-281
• Saraiva, Am J of Med Genetics 1992; 43:726-731
•  OMIM 213300, 608091

Mucopolysaccharidosis II (MPS II; Hunter)

Main Features

Eye Findings

Other Findings