List of All Eye Diseases


Here is the list of all Eye Diseases

  1. Abetalipoproteinemia
  2. Ablepharon macrostomia syndrome
  3. Aceruloplasminemia
  4. Achromatopsia 2
  5. Achromatopsia 3
  6. Acute intermittent porphyria
  7. Acute posterior multifocal placoid pigment epitheliopathy
  8. Acute zonal occult outer retinopathy
  9. ADULT syndrome
  10. Adult-onset vitelliform macular dystrophy
  11. Aicardi syndrome
  12. Aicardi-Goutieres syndrome
  13. Aland island eye disease
  14. Albinism ocular late onset sensorineural deafness
  15. Alexander disease
  16. Alkaptonuria
  17. Alpha-mannosidosis
  18. Alport syndrome
  19. Alström syndrome
  20. Ambras syndrome
  21. Amyloidosis corneal
  22. Aniridia
  23. Aniridia absent patella
  24. Aniridia renal agenesis psychomotor retardation
  25. Ankyloblepharon filiforme imperforate anus
  26. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  27. Anterior ischemic optic neuropathy
  28. Anterior segment dysgenesis
  29. Anterior uveitis
  30. Apert syndrome
  31. Aromatic L-amino acid decarboxylase deficiency
  32. Arthrogryposis renal dysfunction cholestasis syndrome
  33. Ataxia telangiectasia
  34. Ataxia with oculomotor apraxia type 1
  35. Ataxia with Oculomotor Apraxia Type 2
  36. Ataxia with oculomotor apraxia type 4
  37. Ataxia with vitamin E deficiency
  38. Ausems Wittebol-Post Hennekam syndrome
  39. Autosomal dominant leukodystrophy with autonomic disease
  40. Autosomal dominant optic atrophy and cataract
  41. Autosomal dominant optic atrophy plus syndrome
  42. Autosomal dominant vitreoretinochoroidopathy
  43. Autosomal recessive Alport syndrome
  44. Autosomal recessive bestrophinopathy
  45. Autosomal recessive primary microcephaly
  46. Axenfeld-Rieger syndrome
  47. Ayazi syndrome
  48. Barber Say syndrome
  49. Bardet-Biedl syndrome
  50. Bardet-Biedl syndrome 1
  51. Bardet-Biedl syndrome 10
  52. Bardet-Biedl syndrome 11
  53. Bardet-Biedl syndrome 12
  54. Bardet-Biedl syndrome 2
  55. Barth syndrome
  56. Bazex-Dupre-Christol syndrome
  57. Behçet disease
  58. Behr syndrome
  59. Best vitelliform macular dystrophy
  60. Bietti crystalline corneoretinal dystrophy
  61. Birdshot chorioretinopathy
  62. Blau syndrome
  63. Blepharo-cheilo-odontic syndrome
  64. Blepharophimosis with ptosis, syndactyly, and short stature
  65. Blepharoptosis myopia ectopia lentis
  66. Bloom syndrome
  67. Blue cone monochromatism
  68. Borjeson-Forssman-Lehmann syndrome
  69. Bradyopsia
  70. Brittle cornea syndrome
  71. Brown syndrome
  72. CADASIL
  73. Carney complex
  74. Cat eye syndrome
  75. Cataract congenital Volkmann type
  76. Cataract Hutterite type
  77. Cataract microcornea syndrome
  78. Cataract, posterior polar, 1
  79. Cataract, posterior polar, 3
  80. Cataract, posterior polar, 4
  81. Cataract, posterior polar, 5
  82. Cataract, total congenital
  83. Centronuclear myopathy
  84. Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
  85. Cerebro-oculo-facio-skeletal syndrome
  86. Cerebrotendinous xanthomatosis
  87. Cerulean cataract
  88. Chanarin-Dorfman syndrome
  89. Chandler’s syndrome
  90. Char syndrome
  91. CHARGE syndrome
  92. Charles Bonnet syndrome
  93. Chediak-Higashi syndrome
  94. Chorioretinitis
  95. Choroidal dystrophy central areolar
  96. Choroideremia
  97. Chromosome 17q11.2 deletion syndrome
  98. Chromosome 18p deletion
  99. Chromosome 21q deletion
  100. Chromosome 2q24 microdeletion syndrome
  101. Chromosome 5p duplication
  102. Chronic granulomatous disease
  103. Chronic progressive external ophthalmoplegia
  104. Coats disease
  105. Cockayne syndrome type I
  106. Cockayne syndrome type II
  107. Cockayne syndrome type III
  108. Cogan-Reese syndrome
  109. Cohen syndrome
  110. Coloboma of macula
  111. Coloboma of macula with type B brachydactyly
  112. Cone dystrophy
  113. Cone dystrophy X-linked with tapetal-like sheen
  114. Cone-rod dystrophy
  115. Cone-rod dystrophy 1
  116. Cone-rod dystrophy 2
  117. Cone-rod dystrophy 3
  118. Cone-rod dystrophy 5
  119. Cone-rod dystrophy 6
  120. Cone-rod dystrophy X-linked 1
  121. Cone-rod dystrophy X-linked 2
  122. Cone-rod dystrophy X-linked 3
  123. Congenital cystic eye
  124. Congenital disorders of glycosylation
  125. Congenital fibrosis of extraocular muscles
  126. Congenital microcoria
  127. Congenital myasthenic syndrome with episodic apnea
  128. Congenital primary aphakia
  129. Corneal dystrophy and perceptive deafness
  130. Corneal dystrophy Avellino type
  131. Corneal dystrophy crystalline of Schnyder
  132. Corneal dystrophy of Bowman layer type 1
  133. Corneal dystrophy Thiel Behnke type
  134. Corneal endothelial dystrophy type 2
  135. Corneal hypesthesia, familial
  136. Cornelia de Lange syndrome
  137. Corneodermatoosseous syndrome
  138. Cortical blindness-intellectual disability-polydactyly syndrome
  139. Cri du chat syndrome
  140. Crouzon syndrome
  141. Cystinosis
  142. Deafness and myopia syndrome
  143. Dentatorubral-pallidoluysian atrophy
  144. Dermochondrocorneal dystrophy of François
  145. Dermoids of cornea
  146. Developmental prosopagnosia
  147. Dopamine beta hydroxylase deficiency
  148. Doyne honeycomb retinal dystrophy
  149. Duane syndrome
  150. Dubowitz syndrome
  151. Duchenne muscular dystrophy
  152. Dyskeratosis congenita
  153. Dyskeratosis congenita autosomal dominant
  154. Dyskeratosis congenita autosomal recessive
  155. Dyskeratosis congenita X-linked
  156. Dyssegmental dysplasia and glaucoma
  157. Eales disease
  158. Early-onset anterior polar cataract
  159. Early-onset zonular cataract
  160. Ectodermal dysplasia skin fragility syndrome
  161. Ectopia lentis, isolated autosomal recessive
  162. EEC syndrome
  163. EEM syndrome
  164. Enthesitis-related juvenile idiopathic arthritis
  165. Epidermolysa bullosa simplex with muscular dystrophy
  166. Epithelial basement membrane corneal dystrophy
  167. Fabry disease
  168. Familial amyloidosis, Finnish type
  169. Familial congenital palsy of trochlear nerve
  170. Familial dysautonomia
  171. Familial exudative vitreoretinopathy
  172. Familial isolated hypoparathyroidism
  173. Familial LCAT deficiency
  174. Familial visceral myopathy with external ophthalmoplegia
  175. Farber disease
  176. Fatty acid hydroxylase-associated neurodegeneration
  177. Fine-Lubinsky syndrome
  178. Fish-eye disease
  179. Focal dermal hypoplasia
  180. Fragile X syndrome
  181. Fraser syndrome
  182. Friedreich ataxia
  183. Frontofacionasal dysplasia
  184. Fuchs endothelial corneal dystrophy – Not a rare disease
  185. Fuchs heterochromic iridocyclitis
  186. Fukuyama type muscular dystrophy
  187. Fundus dystrophy, pseudoinflammatory, of Sorsby
  188. Galactokinase deficiency
  189. Galactosialidosis
  190. GAPO syndrome
  191. Gardner syndrome
  192. Gaucher disease – ophthalmoplegia – cardiovascular calcification – See Gaucher disease
  193. Gaucher disease type 1
  194. Gaucher disease type 2
  195. Gaucher disease type 3
  196. Gillespie syndrome
  197. Glaucoma sleep apnea
  198. Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
  199. GM1 gangliosidosis type 1
  200. GM1 gangliosidosis type 2
  201. GM1 gangliosidosis type 3
  202. GMS syndrome
  203. Goldberg-Shprintzen megacolon syndrome
  204. Goldenhar disease
  205. Goldmann-Favre syndrome
  206. Graham-Cox syndrome
  207. Griscelli syndrome type 1
  208. Griscelli syndrome type 2
  209. Griscelli syndrome type 3
  210. Groenouw type I corneal dystrophy
  211. Gyrate atrophy of choroid and retina
  212. Hallermann-Streiff syndrome
  213. Hereditary hemorrhagic telangiectasia
  214. Hereditary hemorrhagic telangiectasia type 2
  215. Hereditary hemorrhagic telangiectasia type 3
  216. Hereditary hemorrhagic telangiectasia type 4
  217. Hereditary keratitis
  218. Hereditary vascular retinopathy
  219. Hermansky Pudlak syndrome 2
  220. Homocystinuria due to CBS deficiency
  221. Horizontal gaze palsy with progressive scoliosis
  222. Hurler syndrome
  223. Hurler–Scheie syndrome
  224. Hyperferritinemia cataract syndrome
  225. Hypohidrotic ectodermal dysplasia autosomal recessive
  226. Hypomelanosis of Ito
  227. Hypomyelination and congenital cataract
  228. Ichthyosis lamellar 1
  229. Ichthyosis lamellar, autosomal dominant
  230. Incontinentia pigmenti
  231. Infantile cerebellar retinal degeneration
  232. Intraocular melanoma
  233. IRVAN syndrome
  234. Isolated congenital megalocornea
  235. Isolated ectopia lentis
  236. Jacobsen syndrome
  237. Joubert syndrome with oculorenal anomalies
  238. Junctional epidermolysis bullosa, Herlitz type – See Epidermolysis bullosa
  239. Juvenile polyposis syndrome
  240. Juvenile retinoschisis
  241. Kabuki syndrome
  242. Kaufman oculocerebrofacial syndrome
  243. Kearns-Sayre syndrome
  244. Keratoconus
  245. Keratosis follicularis spinulosa decalvans
  246. KID syndrome
  247. Knobloch syndrome
  248. Krabbe disease
  249. Kyphoscoliotic Ehlers-Danlos syndrome
  250. Lacrimo-auriculo-dento-digital syndrome
  251. Lamellar ichthyosis
  252. Landau-Kleffner syndrome
  253. Laryngoonychocutaneous syndrome – See Epidermolysis bullosa
  254. Late-onset retinal degeneration
  255. Lattice corneal dystrophy type 1
  256. Lattice corneal dystrophy type 3A
  257. Laurence-Moon syndrome
  258. LCHAD deficiency
  259. Leber congenital amaurosis
  260. Leber congenital amaurosis 1 – See Leber congenital amaurosis
  261. Leber congenital amaurosis 10 – See Leber congenital amaurosis
  262. Leber congenital amaurosis 11 – See Leber congenital amaurosis
  263. Leber congenital amaurosis 12 – See Leber congenital amaurosis
  264. Leber congenital amaurosis 13 – See Leber congenital amaurosis
  265. Leber congenital amaurosis 14 – See Leber congenital amaurosis
  266. Leber congenital amaurosis 15 – See Leber congenital amaurosis
  267. Leber congenital amaurosis 16 – See Leber congenital amaurosis
  268. Leber congenital amaurosis 2 – See Leber congenital amaurosis
  269. Leber congenital amaurosis 3 – See Leber congenital amaurosis
  270. Leber congenital amaurosis 4 – See Leber congenital amaurosis
  271. Leber congenital amaurosis 6 – See Leber congenital amaurosis
  272. Leber congenital amaurosis 9 – See Leber congenital amaurosis
  273. Leber hereditary optic neuropathy
  274. Leber hereditary optic neuropathy with dystonia
  275. Leigh syndrome, French Canadian type
  276. Lenz microphthalmia syndrome
  277. LEOPARD syndrome
  278. Leukodystrophy
  279. Ligneous conjunctivitis
  280. Limb-mammary syndrome
  281. Linear nevus sebaceous syndrome
  282. Lowe oculocerebrorenal syndrome
  283. Lowry Maclean syndrome
  284. Lubinsky syndrome
  285. Lymphedema-distichiasis syndrome
  286. Macrosomia with lethal microphthalmia
  287. Macular dystrophy, corneal type 1
  288. Macular telangiectasia type 2 – Not a rare disease
  289. Marfan syndrome
  290. Marinesco-Sjogren syndrome
  291. Marshall syndrome
  292. Martsolf syndrome
  293. Maternally inherited diabetes and deafness
  294. Meckel syndrome
  295. Meesmann corneal dystrophy
  296. Megalocornea – spherophakia – secondary glaucoma
  297. Megalocornea-intellectual disability syndrome
  298. Melnick-Needles syndrome
  299. Menkes disease
  300. Methylmalonic acidemia with homocystinuria type cblC – See Methylmalonic acidemia with homocystinuria
  301. Mevalonic aciduria
  302. Micro syndrome
  303. Microcephaly microcornea syndrome Seemanova type
  304. Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
  305. Microcornea corectopia macular hypoplasia
  306. Microphthalmia syndromic 10
  307. Microphthalmia syndromic 4
  308. Microphthalmia syndromic 5
  309. Microphthalmia syndromic 6
  310. Microphthalmia syndromic 8
  311. Microphthalmia syndromic 9
  312. Microphthalmia with linear skin defects syndrome
  313. Microspherophakia with hernia
  314. Microtia eye coloboma and imperforation of the nasolacrimal duct
  315. Miller syndrome
  316. Milroy disease
  317. Mitochondrial DNA-associated Leigh syndrome
  318. Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
  319. Mitochondrial Membrane Protein-Associated Neurodegeneration
  320. Mitochondrial neurogastrointestinal encephalopathy syndrome
  321. Moebius syndrome
  322. Mohr-Tranebjaerg syndrome
  323. Molybdenum cofactor deficiency
  324. Morning glory syndrome
  325. Mousa Al din Al Nassar syndrome
  326. Mucolipidosis type 4
  327. Mucopolysaccharidosis type III
  328. Mucopolysaccharidosis type IIIA
  329. Mucopolysaccharidosis type IIIB
  330. Mucopolysaccharidosis type IIIC
  331. Mucopolysaccharidosis type IIID
  332. Mucopolysaccharidosis type IV
  333. Mucopolysaccharidosis type IVA
  334. Mucopolysaccharidosis type VII
  335. Muir-Torre syndrome
  336. Muscle eye brain disease
  337. Myoclonic epilepsy with ragged red fibers
  338. Myotonic dystrophy type 1
  339. Myotonic dystrophy type 2
  340. Nager acrofacial dysostosis
  341. Nail-patella syndrome
  342. Nance-Horan syndrome
  343. Nathalie syndrome
  344. Neonatal adrenoleukodystrophy
  345. Neonatal Onset Multisystem Inflammatory disease
  346. Neonatal progeroid syndrome
  347. Netherton syndrome
  348. Neurofibromatosis type 2
  349. Neuromyelitis optica spectrum disorder
  350. Neuronal ceroid lipofuscinosis
  351. Neuronal ceroid lipofuscinosis 10
  352. Neuronal ceroid lipofuscinosis 5
  353. Neuronal ceroid lipofuscinosis 6
  354. Neuronal ceroid lipofuscinosis 7
  355. Neuropathy ataxia retinitis pigmentosa syndrome
  356. Nevoid basal cell carcinoma syndrome
  357. Niemann-Pick disease type A
  358. Niemann-Pick disease type C1
  359. Niemann-Pick disease type C2
  360. Noonan syndrome
  361. Noonan syndrome 1 – See Noonan syndrome
  362. Noonan syndrome 2 – See Noonan syndrome
  363. Noonan syndrome 3 – See Noonan syndrome
  364. Noonan syndrome 4 – See Noonan syndrome
  365. Noonan syndrome 5 – See Noonan syndrome
  366. Noonan syndrome 6 – See Noonan syndrome
  367. Norrie disease
  368. North Carolina macular dystrophy
  369. Nystagmus 1, congenital, X- linked
  370. Nystagmus 2, congenital, autosomal dominant
  371. O Donnell Pappas syndrome
  372. Ocular albinism type 1
  373. Ocular neuromyotonia
  374. Oculoauriculofrontonasal syndrome
  375. Oculocerebral syndrome with hypopigmentation
  376. Oculocutaneous albinism type 1
  377. Oculocutaneous albinism type 1B
  378. Oculocutaneous albinism type 2
  379. Oculocutaneous albinism type 3
  380. Oculodentodigital dysplasia
  381. Oculofaciocardiodental syndrome
  382. Oculomotor apraxia Cogan type
  383. Oculopharyngeal muscular dystrophy
  384. Oculopharyngodistal myopathy
  385. Oguchi disease
  386. OPA3 defect
  387. Opsoclonus-myoclonus syndrome
  388. Optic atrophy 1
  389. Optic atrophy 2
  390. Optic atrophy 5
  391. Optic atrophy 6
  392. Optic neuritis
  393. Orbital varix
  394. Osteopetrosis autosomal dominant type 2
  395. Osteopetrosis autosomal recessive 4
  396. Osteoporosis-pseudoglioma syndrome
  397. Panuveitis
  398. Parkinson disease type 9
  399. Partington syndrome
  400. Pattern dystrophy
  401. Pearson syndrome
  402. PEHO syndrome
  403. Pelizaeus-Merzbacher disease
  404. Peters anomaly
  405. Peters plus syndrome
  406. Peutz-Jeghers syndrome
  407. PHACE syndrome
  408. Piebaldism
  409. Pierre Robin sequence
  410. Pillay syndrome
  411. Pontocerebellar hypoplasia type 3
  412. Popliteal pterygium syndrome
  413. Porphyria cutanea tarda
  414. Posterior uveitis
  415. Primary open angle glaucoma juvenile onset 1
  416. Progeria
  417. Progressive bifocal chorioretinal atrophy
  418. Proximal chromosome 18q deletion syndrome
  419. Pseudohypoparathyroidism type 1A
  420. Pseudohypoparathyroidism type 1C
  421. Pseudopseudohypoparathyroidism
  422. Pseudoxanthoma elasticum
  423. Pterygium of the conjunctiva and cornea
  424. Ptosis strabismus ectopic pupils
  425. Punctate inner choroidopathy
  426. Recessive dystrophic epidermolysis bullosa-generalized other
  427. Reese retinal dysplasia
  428. Refsum disease
  429. Refsum disease, infantile form
  430. Renal coloboma syndrome
  431. Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
  432. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
  433. Retinal cone dystrophy 1
  434. Retinal cone dystrophy 2
  435. Retinal cone dystrophy 3A
  436. Retinal cone dystrophy 3B
  437. Retinal cone dystrophy 4
  438. Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
  439. Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
  440. Retinitis pigmentosa
  441. Retinitis pigmentosa 1 – See Retinitis pigmentosa
  442. Retinitis Pigmentosa 11 – See Retinitis pigmentosa
  443. Retinitis pigmentosa 12 – See Retinitis pigmentosa
  444. Retinitis Pigmentosa 13 – See Retinitis pigmentosa
  445. Retinitis Pigmentosa 14 – See Retinitis pigmentosa
  446. Retinitis Pigmentosa 15 – See Retinitis pigmentosa
  447. Retinitis Pigmentosa 17 – See Retinitis pigmentosa
  448. Retinitis Pigmentosa 18 – See Retinitis pigmentosa
  449. Retinitis Pigmentosa 19 – See Retinitis pigmentosa
  450. Retinitis Pigmentosa 20 – See Retinitis pigmentosa
  451. Retinitis Pigmentosa 22 – See Retinitis pigmentosa
  452. Retinitis Pigmentosa 23 – See Retinitis pigmentosa
  453. Retinitis Pigmentosa 24 – See Retinitis pigmentosa
  454. Retinitis Pigmentosa 25 – See Retinitis pigmentosa
  455. Retinitis Pigmentosa 26 – See Retinitis pigmentosa
  456. Retinitis Pigmentosa 28 – See Retinitis pigmentosa
  457. Retinitis pigmentosa 29 – See Retinitis pigmentosa
  458. Retinitis pigmentosa 3 – See Retinitis pigmentosa
  459. Retinitis Pigmentosa 30 – See Retinitis pigmentosa
  460. Retinitis Pigmentosa 31 – See Retinitis pigmentosa
  461. Retinitis Pigmentosa 32 – See Retinitis pigmentosa
  462. Retinitis Pigmentosa 33 – See Retinitis pigmentosa
  463. Retinitis Pigmentosa 34 – See Retinitis pigmentosa
  464. Retinitis Pigmentosa 35 – See Retinitis pigmentosa
  465. Retinitis Pigmentosa 36 – See Retinitis pigmentosa
  466. Retinitis Pigmentosa 4 – See Retinitis pigmentosa
  467. Retinitis Pigmentosa 41 – See Retinitis pigmentosa
  468. Retinitis Pigmentosa 6 – See Retinitis pigmentosa
  469. Retinitis Pigmentosa 7 – See Retinitis pigmentosa
  470. Retinitis Pigmentosa 9 – See Retinitis pigmentosa
  471. Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
  472. Retinopathy of prematurity
  473. Revesz syndrome
  474. Rhizomelic chondrodysplasia punctata type 1
  475. RHYNS syndrome
  476. Ring dermoid of cornea
  477. Roberts syndrome
  478. Rutherfurd syndrome
  479. Saethre-Chotzen syndrome
  480. Sandhoff disease
  481. Sarcoidosis – Not a rare disease
  482. Scheie syndrome
  483. Schimke immunoosseous dysplasia
  484. Schwartz Jampel syndrome
  485. Sengers syndrome
  486. Senior Loken Syndrome
  487. Septo-optic dysplasia spectrum
  488. Serpiginous choroiditis
  489. Severe generalized recessive dystrophic epidermolysis bullosa
  490. Severe X-linked intellectual disability, Gustavson type
  491. SHORT syndrome
  492. Sialidosis type I
  493. Sialidosis, type II
  494. Sjogren-Larsson syndrome
  495. Slow-channel congenital myasthenic syndrome
  496. Smith-Lemli-Opitz syndrome
  497. Snowflake vitreoretinal degeneration
  498. Sotos syndrome
  499. Spastic paraplegia 2
  500. Spastic paraplegia 7
  501. Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
  502. Spinocerebellar ataxia 7
  503. Spinocerebellar ataxia autosomal recessive 5
  504. Spinocerebellar degeneration and corneal dystrophy
  505. Spondyloepiphyseal dysplasia
  506. SRD5A3-CDG (CDG-Iq)
  507. Stargardt disease
  508. Sturge-Weber syndrome
  509. Subaortic stenosis short stature syndrome
  510. Superior limbic keratoconjunctivitis
  511. Syndromic microphthalmia, type 3
  512. Tangier disease
  513. Tay-Sachs disease
  514. Tietz syndrome
  515. Tolosa Hunt syndrome
  516. Trachoma
  517. Treacher Collins syndrome
  518. Triple A syndrome
  519. Triploidy
  520. Trisomy 13
  521. Trisomy 18
  522. Tuberous sclerosis complex
  523. Tubulointerstitial nephritis and uveitis
  524. Tucker syndrome
  525. Tyrosinemia type 2
  526. Usher syndrome
  527. Usher syndrome type 2A
  528. Usher syndrome type 3A
  529. Usher syndrome, type 1
  530. Usher syndrome, type 1B – See Usher syndrome
  531. Usher syndrome, type 1C – See Usher syndrome
  532. Usher syndrome, type 1D – See Usher syndrome
  533. Usher syndrome, type 1E – See Usher syndrome
  534. Usher syndrome, type 1F – See Usher syndrome
  535. Usher syndrome, type 2B – See Usher syndrome
  536. Usher syndrome, type 2C – See Usher syndrome
  537. Uveal diseases
  538. Verloes Van Maldergem Marneffe syndrome
  539. Vernal keratoconjunctivitis
  540. Vici syndrome
  541. Vogt-Koyanagi-Harada disease
  542. Von Hippel-Lindau disease
  543. Waardenburg syndrome type 1
  544. Waardenburg syndrome type 2
  545. Waardenburg syndrome type 3
  546. Waardenburg syndrome type 4
  547. Wagner syndrome
  548. WAGR syndrome
  549. Walker-Warburg syndrome
  550. Weill-Marchesani syndrome
  551. Werner syndrome
  552. Williams syndrome
  553. Wilson disease
  554. Wolf-Hirschhorn syndrome
  555. Wolfram syndrome
  556. Wrinkly skin syndrome
  557. Wyburn-Mason syndrome
  558. X-linked Charcot-Marie-Tooth disease type 5 – See Charcot-Marie-Tooth disease
  559. X-linked congenital generalized hypertrichosis
  560. X-linked congenital stationary night blindness
  561. X-linked dominant chondrodysplasia punctata 2
  562. X-linked hypohidrotic ectodermal dysplasia
  563. X-linked ichthyosis
  564. X-linked myotubular myopathy
  565. Zellweger syndrome

Source Link -: https://rarediseases.info.nih.gov/diseases/diseases-by-category/9/eye-diseases