What Conditions or Syndromes are associated with Cataracts?

What Conditions or Syndromes are associated with Cataracts?

This is a great list but would add:

Trauma of any kind and

Wilson’s syndrome: hepatolenticular degeneration: a neurological condition
Cohen syndrome,
Degos disease, 
Dubowitz syndrome

Sandra Lora Cremers, MD, FACS

Modified from:


1. Aberfeld syndrome (blepharophimosis associated with generalized myopathy)
2. Acrodermatitis chronic a atrophicans
3. Addison syndrome (adrenal cortical insufficiency)
4. Albinism
5. Albright hereditary osteodystrophy (pseudohypoparathyroidism)
6. Alopecia areata
*7. Alport syndrome (hereditary nephritis)
8. Alström disease (cataract and retinitis pigmentosa)
9. Andogsky syndrome (atopic cataract syndrome)
10. Anterior segment ischemia syndrome
11. Apert syndrome (acrocephalosyndactylism syndrome)
12. Apical malformations associated with cataracts
13. Arteriovenous fistula
14. Arthrogryposis multiplex congenita
15. Aspergillosis
*16. Atopic dermatitis syndrome
17. Autosomal dominant foveal hypoplasia and presenile cataract syndrome (O’Donnell-Pappas syndrome)
18. Bassen-Kornzweig syndrome (abetalipoproteinemia)
19. Bloch-Sulzberger syndrome (incontinentia pigmenti)
20. Bonnevie-Ullrich syndrome (pterygolymphangiectasia)
21. Bourneville syndrome (tuberous sclerosis)
22. Buerger disease (thromboangiitis obliterans)
23. Caisson syndrome (bends)
24. Capsular exfoliation syndrome
25. Carotid artery syndrome
26. Cataract and hypertrophic neuropathy-autosomal recessive
27. Cataract with microcornea and coloboma of iris-autosomal dominant
28. Cataract, floriform-autosomal dominant
29. Cataract and cardiomyopathy-autosomal recessive
30. Cataract, congenital, or juvenile-autosomal recessive
31. Cataract, congenital total, with posterior sutural opacities in heterozygotes-X-linked
32. Cataract, congenital with absence deformity of leg-autosomal recessive
33. Cataract, congenital, with microcornea or slight microphthalmia-X-linked
34. Cataract, cortical, and congenital ichthyosis-autosomal recessive
35. Cataract, mental retardation, hypogonadism (Martsolf syndrome)
36. Cataract, microcephaly, arthrogryposis kyphosis syndrome (CAMAK syndrome)-autosomal recessive
37. Cataract microcephaly, failure to thrive, kyphoscoliosis syndrome (CAMFAK syndrome)-autosomal recessive
38. Cataract, nuclear and total nuclear-usually autosomal dominant rarely recessive
39. Cataract, zonular, and nystagmus-X-linked
40. Cat-eye syndrome (Schmid-Fraccaro syndrome)
41. Cerebral cholesterinosis (cerebrotendinous xanthomatosis)
42. Cerebellar ataxia, cataract, deafness, and dementia or psychosis
43. Cerebral palsy
44. Cerebrohepatorenal syndrome (Smith-Lemli-Opitz syndrome)
45. Cerebrotendinous xanthomatosis
46. Cholera
47. Chromosome 13q partial deletion (long-arm) syndrome
48. Chromosomal 3; 18 translocation
49. Chromosome deletion (short-arm) syndrome
50. Cockayne syndrome (dwarfism with retinal atrophy and deafness)
51. Cerebrooculofascioskeletal syndrome (COFS syndrome)

51A Cohen syndrome,
52. Congenital cataract and hypertrophic cardiomyopathy syndrome
53. Congenital cataract with oxycephaly (tower skull)
54. Congenital hemolytic icterus
55. Congenital ichthyosiform erythroderma
56. Congenital rubella syndrome (German measles)
57. Conradi syndrome (stippled epiphyses syndrome)
58. Comedo-cataract
59. Craniofacial dysostosis (Crouzon disease)
60. Cretinism (hypothyroidism)
61. Crome syndrome (congenital cataracts, epileptic fits, mental retardation, small stature)
62. Cushing syndrome
63. Cytomegalovirus
64. Darier-White syndrome (keratosis follicularis)
65. DeBarsy syndrome

65A Degos disease, 
66. Dermatitis herpetiformis
*67. Diabetes mellitus (Willis disease)

Type I and Type 2
68. Diarrhea
69. Diphtheria

69A Dubowitz syndrome
70. Ectodermal dysplasia
71. Edward syndrome
72. Electrical injury
73. Ellis-van Creveld syndrome (chondroectodermal dysplasia)
74. Engelmann syndrome (diaphyseal dysplasia)
75. Epidermal nevus syndrome (ichthyosis hystrix)
76. Fabry disease (diffuse angiokeratosis)
77. Familial congenital cataracts, microcornea, abnormal irides, nystagmus, and glaucoma syndrome
78. Familial congenital cataract, nonprogressive neurologic disorders, and mental deficiency syndrome
79. Familial histiocytic dermatoarthritis syndrome
80. Familial hypogonadism syndrome
81. Familial t(2;16) translocation
82. Fetal alcohol syndrome
83. Folling syndrome (phenylketonuria)
84. François dyscephalic syndrome (Hallermann-Streiff syndrome)
85. Frenkel syndrome (ocular contusion syndrome)
86. Fuchs syndrome (I) (heterochromic cyclitis syndrome)
87. Galactokinase deficiency-autosomal recessive
*88. Galactosemia-transferase deficiency

89. Goldenhar syndrome (oculoauriculovertebral dysplasia)
90. Goldscheider syndrome (epidermolysis bullosa)
91. Gorlin-Goltz syndrome (multiple basal cell nevi syndrome)
92. Grönblad-Strandberg syndrome (pseudoxanthoma elasticum)
93. Gyrate atrophy (ornithine ketoacid aminotransferase deficiency)
94. Hagberg-Santavuori syndrome (neuronal ceroid-lipofuscinosis)
95. Hallermann-Streiff syndrome (oculomandibulofacial dyscephaly)
96. Hand-Schüller-Christian syndrome (histiocytosis X)
97. Harada disease (uveitis-vitiligo-alopecia-poliosis syndrome)
98. Heerfordt syndrome (uveoparotid fever)
99. Hemifacial microsomia syndrome (François- Haustrate syndrome)
100. Herpes simplex virus
101. Hilding syndrome (destructive iridocyclitis and multiple joint dislocations)
102. Hodgkin disease
103. Homocystinuria
104. Hookworm disease
105. Hruby-Irvine-Gass syndrome (cystoid maculopathy following cataract extraction with vitreous loss)
106. Hutchinson-Gilford syndrome (progeria)
107. Hydatid cyst
108. Hypercalcemia (adult)
109. Hypercalcemia (infantile) with mental retardation (supravalvular aortic stenosis syndrome)
110. Hyperprolactinemia
111. Hypertrophic cardiomyopathy
112. Hypervitaminosis A
113. Hypervitaminosis D
114. Hypocalcemia
115. Hypoglycemia
116. Hypoparathyroidism
117. Hypophosphatasia (phosphoethanolaminuria)
118. Incontinentia pigmenti achromians
119. Infantile hypoglycemia (male)
120. Influenza
121. Infrared radiation
122. Intrauterine infections

 A. herpes virus
 B. mumps
 C. rubella
 D. toxoplasmosis
 E. vaccinia

123. Jacobsen-Brodwall syndrome
124. Jadassohn-Lewandowsky syndrome (pachyonychia congenita)
125. Karsch-Neugebauer syndrome (nystagmus-split hand syndrome)
126. Klippel-Trenaunay-Weber syndrome (angioosteohypertrophy syndrome)
127. Krause syndrome (congenital encephaloophthalmic dysplasia)
128. Kussmaul disease (periarteritis nodosa)
129. Kyrle disease (hyperkeratosis penetrans)
130. Lanzieri syndrome (craniofacial malformations)
131. Laser treatment for retinopathy of prematurity
132. Laurence-Moon-Biedl syndrome (retinitis pigmentosa-polydactyly-adiposogenital)
133. Leber syndrome (optic atrophy-amaurosis-pituitary syndrome)
134. Leiomyoma
135. Leri syndrome (carpal tunnel syndrome)
136. Lightning
137. Listerellosis
*138. Lowe syndrome (oculocerebrorenal syndrome)
139. Majewski syndrome (short-rib polydactyly syndrome)
140. Malaria
141. Male Turner syndrome (Noonan syndrome)
142. Malignant hyperpyrexia syndrome
143. Mandibulofacial dysostosis (Franceschetti syndrome)
144. Mannosidosis
145. Maple-syrup urine disease (branched-chain ketoaciduria
146. Marfan syndrome (arachnodactyly dystrophia mesodermaliscongenita)
147. Marinesco-Sjögren syndrome (congenital cataract-oligophrenia syndrome)
148. Marshall syndrome (atypical ectodermal dysplasia)
149. Martsolf syndrome
150. Matsoukas syndrome (oculocerebroarticuloskeletal syndrome)
151. Meckel syndrome (dysencephalia splanchnocystic syndrome)
152. Microcephaly, microphthalmia, cataracts, and joint contractures syndrome
153. Microphthalmia-congenital anterior polar cataract syndrome-autosomal dominant
154. Micro syndrome
155. Miller syndrome (Wilms aniridia syndrome)
156. Monilethrix
157. Morgan syndrome (intracranial exostosis)
158. Morquio-Brailsford syndrome (mucopolysaccharidoses IV)
159. Multiple sulfatase deficiency
160. Myopic (high)
161. Myotonic dystrophy (Curschmann-Steinert syndrome)
162. Nail-patella syndrome (Little syndrome)
163. Nance-Horan syndrome (cataract-dental syndrome)
164. Neurodermatitis
165. Neurofibromatosis 1 (von Recklinghausen syndrome)
166. Neurofibromatosis 2 (central neurofibromatosis)
167. Nieden syndrome (telangiectasia-cataract syndrome)
168. Norrie disease
169. Oculootoororenoerythropoietic disease
170. Optic atrophy, cataract, and neurologic disorder-autosomal dominant
171. Osteogenesis imperfecta congenita, microcephaly, and cataracts-autosomal recessive
172. Osteopetrosis (Albers-Schönberg syndrome)
173. Oxycephaly
174. Pachyonychia congenita syndrome
175. Paget syndrome (idiopathic hyperphosphatasemia)
176. Pallister-Killian syndrome
177. Partial trisomy 10q trisomy
178. Passow syndrome (syringomyelia)
179. Patau syndrome
180. Pellagra (avitaminosis B2)
181. Pemphigus foliaceus (Cazenave disease)
182. Pernicious anemia syndrome (vitamin B12 deficiency)
183. Pierre Robin syndrome (micrognathia-glossoptosis syndrome)
184. Prader-Labhart-Willi syndrome (hypogenital dystrophy with diabetic tendency)
185. Pseudoexfoliation syndrome
186. Pseudohypoparathyroidism
187. Radiation
188. Reese-Ellsworth syndrome (anterior chamber cleavage syndrome)
189. Refsum syndrome (phytanic acid storage disease)
190. Renal failure (chronic)
191. Renal transplantation
192. Retinal ischemic infarction syndrome
*193. Retinitis pigmentosa-deafness-ataxia syndrome
194. Rhizomelic chondrodysplasia punctata
195. Riboflavin deficiency syndrome (oculoorogenital syndrome)
196. Ring chromosome in the D group
197. Robert syndrome
198. Robert pseudothalidomide syndrome
199. Romberg syndrome (facial hemiatrophy)
200. Rothmund syndrome (infantile poikiloderma)
*201. Roy syndrome I (unilateral cataract associated with smoking)
202. Roy syndrome II-nuclear cataract associated with smoking
203. Rubeola (measles)
204. Rubinstein-Taybi syndrome (broad-thumbs syndrome)
205. Scaphocephaly syndrome (craniofacial dysostoses)
206. Schaefer syndrome (congenital dyskeratosis)
207. Schwartz syndrome
208. Scurvy (avitaminosis C)
209. Sickle cell disease (Herrick syndrome)
210. Siemen syndrome (congenital atrophy of the skin)
211. Sjögren syndrome (secretoinhibitor syndrome)
212. Sjögren-Larsson syndrome (oligophrenia ichthyosis)
213. Smith-Lemli-Opitz syndrome
214. Split-hand with congenital nystagmus, fundal changes, cataracts-autosomal dominant
215. Spondyloepiphyseal dysplasia (SED) dwarfism
216. Stannus cerebellar syndrome (vitamin B2 deficiency)
217. Stickler syndrome (hereditary progressive arthro-ophthalmopathy)
*218. Still disease (juvenile rheumatoid arthritis)
219. Thrombocytopenia-absent radius (TAR) syndrome
220. Toxocariasis (nematode ophthalmia syndrome)
221. Treacher Collins syndrome (mandibulofacial dysostosis)

221A TRAUMA of any kind
222. Trichomegaly, spherocytosis, and cataract -autosomal dominant
223. Trichorrhexis nodosa (argininosuccinicaciduria)
224. Trisomy 13 syndrome (Patau syndrome)
225. Trisomy 16 syndrome (Edward syndrome)
226. Trisomy 20p syndrome
227. Trisomy 21 (Down syndrome)
228. Tuomaala-Haapanen syndrome
229. Turner syndrome (gonadal dysgenesis)
230. Tyrosinosis (Hanhart syndrome)
231. Usher syndrome (hereditary retinitis pigmentosa-deafness syndrome)
232. Uvea-touch syndrome
233. Van der Hoeve syndrome (brittle-bone disease)
234. Van Bogaert-Scherer-Epstein syndrome (primary hyperlipidemia)
235. Varicella infection
236. von Recklinghausen syndrome (neurofibromatosis)
237. Wagner syndrome (hyaloideoretinal degeneration)
283. Warburg syndrome (hydrocephalus, agyria, and absent cortical laminar retinal dysplasia with or without encephalocele)
239. Ward syndrome (nevus-jaw cyst syndrome)
240. Wegener syndrome (Wegener granulomatosis)
241. Weil disease (leptospirosis)
242. Werner syndrome (scleropoililoderma)
243. Wilson disease (hepatolenticular degeneration)
244. Yersiniosis
245. Zellweger syndrome (cerebrohepatorenal syndrome)
246. 31 syndrome
247. 4p syndrome
248. l8p syndrome
249. l8q syndrome

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Ng JS. et al. Ocular complications of pediatric bone marrow transplantation. Ophthalmology 1999; 106:160-164.
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Roy FH. Ocular syndromes and systemic diseases. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.

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