1. African eye-worm disease
2. Albers-Schonberg syndrome (osteosclerosis fragilis generalisata)
3. Albinism, ocular
4. Alexander disease
5. Anterior spinal artery syndrome
6. Apert syndrome (acrocephalosyndactylism syndrome)
7. Arnold-Chiari syndrome (platybasia syndrome)
8. Arylsulfatase A deficiency syndrome
9. Babinski-Nageotte syndrome (medullary tegmental syndrome)
10. Bacterial endocarditis
11. Bassen-Kornzweig syndrome (abetalipoproteinemia)
12. Behçet syndrome (dermatostomatoophthalmic syndrome)
13. Behr disease (optic atrophy-ataxia syndrome)
14. Bielschowsky-Lutz-Cogan syndrome (internuclear ophthalmoplegia)
15. Bloch-Sulzberger disease (incontinentia pigmenti)*
16. Blocked nystagmus syndrome (nystagmus blockage syndrome)
17. Bonnet-Dechaume-Blanc syndrome (neuroretinoangiomatosis syndrome)
18. Botulism
19. Brown-Marie syndrome (hereditary ataxia syndrome)
20. Caisson syndrome (bends)
21. Canavan disease (spongy degeneration of the white matter)
22. Cerebral palsy
23. Cestan-Chenais syndrome (combination of Babinski-Nageotte and Avellis syndrome)
24. Charcot-Marie- Tooth disease (progressive peroneal muscular atrophy)
25. CHARGE syndrome (colomba, heart disease, atresia, choanae, retarded growth and retarded development or central nervous system anomalies, genital hypoplasia, and ear anomalies or deafness syndrome)
26. Chediak-Higashi syndrome (anomalous leukocytic inclusions with constitutional stigmata)
27. Cherry-red spot myoclonus syndrome
28. Chromosome 6p12
29. Chromosome 18, partial deletion (long-arm) syndrome
30. Cockayne syndrome (dwarfism with retinal atrophy and deafness)
31. Cogan syndrome (II) (oculomotor apraxia syndrome)
*32. Cone dysfunction syndrome (achromatopsia)
33. Costen syndrome (temporomandibular joint syndrome)
34. Craniocervical syndrome (whiplash syndrome)
35. Craniopharyngioma
36. Craniostenosis
37. Creutzfeldt-Jakob syndrome (spastic pseudosclerosis)
38. Crouzon disease (craniofacial dysostosis)
39. Curtius syndrome (ectodermal dysplasia with ocular malformations)
40. Cushing syndrome (II) (angle tumor syndrome)
41. Cytomegalic inclusion disease, congenital
42. Dawson disease (subacute sclerosing panencephalitis)
43. de Lange syndrome (congenital muscular hypertrophy-cerebral syndrome)
44. Diencephalic syndrome (autonomic epilepsy syndrome) (Russell syndrome)
45. Disseminated lupus erythematosus (Kaposi-Libman-Sacks syndrome)
*46. Disseminated sclerosis (multiple sclerosis)
47. Down disease (mongolism, trisomy 21)
48. Drummond syndrome (idiopathic hypercalcemia)
49. Eclampsia and preeclampsia
50. Electrical injury
51. Encephalitis, acute
52. Epidermal nevus syndrome (ichthyosis hystrix)
53. Epiphysial dysplasia, microcephaly, and nystagmus-autosomal recessive
54. Extreme hydrocephalus syndrome
55. Fanconi-Turler syndrome (familial ataxic diplegia)
56. Fetal hydantoin syndrome
57. Forsius-Eriksson syndrome (Aland disease)
58. François dyscephalic syndrome
59. Gangliosidosis (generalized gangliosidosis, infantile)
60. General fibrosis syndrome
61. Goltz syndrome (focal dermal hypoplasia syndrome)
62. Gorlin-Chaudhry-Moss syndrome
63. Guillain-Barré syndrome (acute infectious neuritis)
64. Hallervorden-Spatz syndrome (pigmentary degeneration of globus pallidus)
65. Hallgren syndrome (retinitis pigmentosa-deafness-ataxia syndrome)
66. Hand-Schüller-Christian syndrome (histiocytosis X)
67. Hanhart syndrome (recessive keratosis palmoplantaris)
68. Hartnup syndrome (niacin deficiency)
69. Hennebert syndrome (luetic-otitic-nystagmus syndrome)
70. Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)
71. Hurler syndrome (mucopolysaccharidoses I-H)
72. Hypervitaminosis D
73. Hypomelanosis of Ito syndrome (incontinentia pigmenti achromians)
74. Hypothyroidism (cretinism)
75. Hysteria
76. Infantile globoid cell leukodystrophy (Krabbe disease)
77. Infantile neuroaxonal dystrophy
78. Infectious mononucleosis
79. Japanese River fever (typhus)
80. Jeune disease (asphyxiating thoracic dystrophy)
81. Kernicterus-high levels of bilirubin in the blood
82. Klippel-Feil syndrome (congenital brevicollis)
83. Koerber-Salus-Elschnig syndrome (sylvian aqueduct syndrome)
84. Kohn-Romano syndrome (blepharophimosis, ptosis, epicanthus inversus, telecanthus) (Blepharophimosis syndrome)
85. Kugelberg-Welander syndrome (progressive proximal muscle atrophy)
86. Laurence-Moon-Bardet-Biedl syndrome (retinitis pigmentosa-polydactyly-adiposogenital syndrome)*
87. Leber congenital amaurosis syndrome (retinal aplasia)
88. Leigh disease (subacute necrotizing encephalomyelopathy)
89. Lenoble-Aubineau syndrome (nystagmus-myoclonia syndrome)
90. Lermoyez syndrome (form of Meniere disease)
91. Linear nevus sebaceous of Jadassohn
92. Lockjaw (tetanus)
93. Louis-Bar syndrome (ataxia-telangiectasia syndrome)
94. Lowe disease (oculocerebrorenal syndrome)
95. Malignant hyperthermia syndrome
96. Maple syrup urine disease
97. Marfan syndrome (acrachnadactyly-dystrophia mesodermalis congenita)
98. Marinesco-Sjögren syndrome (congenital spirocerebellar ataxia-congenital cataract-oligophrenia syndrome)
98. Meniere syndrome (vertigo, tinnitus, nystagmus)
99. Meningococcemia (meningitis)
100. Mietens syndrome
101. Morning glory syndrome (optic nerve dysplasia, encephalocele)
102. Moyamoya disease (multiple progressive intracranial arterial occlusion)
103. Multiple lentigines syndrome (Leopard syndrome)
104. Naegeli syndrome (melanophoric nevus syndrome)
*105. Nystagmus, congenital
106. O'Donnell-Pappas syndrome (dominant foveal hypoplasia and presenile cataracts)* optic nerve hypoplasia, coloboma
107. Papillon-Lerevre syndrome (hyperkeratosis palmoplantaris with periodontosis)
108. Parkinson disease
109. Passow syndrome (status dysraphicus syndrome)
110. Pelizaeus-Merzbacher disease (aplasia axialis extracorticalis congenita) - x-linked
111. Photomyoclonus, diabetes mellitus, deafness, neuropathy, and cerebellar dysfunction- autosomal dominant
112. Poliomyelitis
113. Posthypoxic encephalopathy syndrome
114. Pyle disease (familial metaphyseal dysplasia)
115. Quincke disease (angioedema)
116. Rubella, congenital
117. Reimann syndrome (hyperviscosity syndrome)
118. Relapsing polychondritis
119. Scaphocephaly syndrome
120. Schilder disease (encephalitis periaxialis diffusa)
121. Seckel syndrome (bird-headed dwarf syndrome)*
122. Septooptic dysplasia (de Morsier syndrome)
123. Smith-Lemli-Opitz syndrome (cerebrohepatorenal syndrome)
124. Sorsby syndrome (hereditary macular coloboma syndrome)
125. Spastic paraplegia - x-linked
126. Split hand with congenital nystagmus, fundal changes, cataracts-autosomal dominant
127. Stannus cerebellar syndrome (riboflavin deficiency)
128. Subclavian steal syndrome
129. Tay-Sachs disease (familial amaurotic idiocy)
130. Traumatic encephalopathy syndrome (punch-drunk syndrome)
131. Tremor, nystagmus, and duodenal ulcer-autosomal dominant
132. Tuomaala-Haapanen syndrome (similar to pseudohypoparathyroidism)
133. Vermis syndrome
134. Vertebral basilar artery syndrome
135. von Economo syndrome (encephalitis lethargica)
136. von Reuss syndrome (galactosemic syndrome)
137. Wagner syndrome (hyaloideoretinal degeneration)
138. Wallenberg syndrome (lateral bulbar syndrome)
139. Werner syndrome (progeria of adults)
140. Wernicke syndrome (superior hemorrhagic polioencephalopathic syndrome)
141. Wildervanck syndrome (cervicooculoacoustic syndrome)
142. Wilson disease (hepatolenticular degeneration)
143. Wolf syndrome (monosomy partial syndrome)
144. Zellweger syndrome (cerebrohepatorenal syndrome of Zellweger)

Hayashi N, et al. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. Ophthalmology 2000; 107:1397-1402.

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: Johns Hopkins University Press, 1998.

Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.