·
Cerebellar Vermus
Hypoplasia
Agenesis
of Corpus Callosum- DDx
Cerebellar
Vermis Hypoplasia- DDx
Cherry Red Spot- DDx
·
Central retinal artery occlusion
·
Farber lipogranulomatosis
·
GM1 gangliosidosis type 1, type 2
·
GM2 gangliosidosis type 1 (Tay-Sachs
disease) or type 2 (Sandhoff disease)
·
Metachromatic leukodystrophy
·
Neimann-Pick disease
·
Sialidosis
·
Trauma
·
Idiopathic
·
HSV, HZV
·
Syphillis
·
TB
·
Mumps
·
Infectious
Mononucleosis
·
Rubeola
·
Sarcoidosis
·
Leprosy
·
Onchocerciasis
·
lymphogranuloma venerum
·
Cogan's Syndrome
o
Young adults
(rarely children)
o
Inflammatory
disorder of cornea and vestibuloauditory system
o
Vaculitis of aorta and medium sized vessels may be seen.
o
topical corticosteroids
o
systemic corticosteroids to prevent deafness and
cardiovascular disease
Neurodegenative conditions of Ophthalmic Importance
·
Onset in Late Childhood or
Adolescence
Neurodegenerative conditions with Onset in Infancy
· Lysosome sphingolipidoses, oligosaccharidoses, mucolipidoses,
ceroidoses
o
GM2 Gangliosidosis
Type 1 (Tay-Sachs disease)
o
GM2 Gangliosidosis Type 2 (Sandhoff
disease)
o
Krabbe Disase
o
Gaucher disease type 2
o
Neimann-Pick disease
o
Sialolipidosis
o
Mannosidosis type 1
o
Mucolipidosis II, I-cell disease
o
Infantile
Neuronal Ceroid-Lipofuscinosis (Santavouri-Haltia
disease)
· Peroxisome disorders
o
Neonatal Adrenoleukodystrophy
o
Infantile Refusum's disease
o
Zellweger syndrome
· Mitochondrial disorders
o
Leigh syndrome
· Miscellaneous
o
Canavan disease
o
Pelizaeus-Merzbacher disease
o
Lowe syndrome
Neurodegenerative conditions with Onset in Early
Childhood
·
Lysosome sphingolipidoses, oligosaccharidoses,
mucolipidoses, mucopolysaccharidoses,
ceroidoses
o
Metachromatic Leukodystrophy
o
Gaucher disease type 3
o
Neimann-Pick type IS
o
Neimann-Pick type IIS
o
Aspartylglycosaminuria
o
Fucosidosis
o
Mannosidosis
o
Schindler neuroaxonal dystrophy
o
Mucolipidosis III (pseudo-Hurler polydystrophy)
o
MPS 1H (Hurler)
o
MPS II (Hunter)
o
MPS III (Sanfilippo)
o
Late infantile
Neuronal Ceroid-lipofuscinosis (Jansky-Bielschowsky)
·
Mitochondrial
disorders
o
MELAS syndrome
·
Peroxisome
disorders
o
Adrenoleukodystrophy
·
Miscellaneous
o
Riley-Day
syndrome (familial dysautonomia)
o
Neuroaxonal dystrophy
o
Ataxia
telangiectasia (Louis-Bar syndrome)
Neurodegenerative condition with Onset in Late
Childhood and Adolescence
·
Corneal ulcer/foreign body
·
Glaucoma
·
s/p ROP laser
·
Aniridia (mild)
·
Albinism/Albinoidism (mild)
·
Achromatopsia
·
Cystinosis
·
Tyrosinemia Type 2
·
Cystic fibrosis with low Vitamin A levels and xerophthalmia
·
Posterior fossa tumor
o
Marmor, MA, Beauchamp, GR & Maddox, SF: Photophobia,
Epiphora and Torticollis: a Masquerade Syndrome. J Ped Oph & Strab
27: 202-4, 1990