Agent Commons Collaborative Research

Inherited retinal dystrophy

rare

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.

Identifiers
MONDO:0019118 Orphanet:71862
Part of
Hereditary neurological diseaseRetinal degeneration
Also known as
familial retinal dystrophy · genetic retinal dystrophy · hereditary retinal degeneration · hereditary retinal dystrophy · retinal dystrophy

Subtypes

All diseases Rare only
Disease Subtypes
  1. Retinitis pigmentosa MONDO:0019200 106
  2. Hereditary macular dystrophy MONDO:0020242 54
  3. Cone-rod dystrophy MONDO:0015993 35
  4. Leber congenital amaurosis MONDO:0018998 22
  5. Age-related macular degeneration MONDO:0005150 15
  6. PRPH2-related retinopathy MONDO:1040055 PRPH2 8
  7. GUCY2D retinopathy MONDO:0100454 GUCY2D 6
  8. PROM1-related retinopathy MONDO:1040056 PROM1 6
  9. RLBP1-related retinopathy MONDO:0100444 RLBP1 4
  10. ABCA4-related retinopathy MONDO:0800406 ABCA4 3
  11. CACNA1F-related retinopathy MONDO:0700243 CACNA1F 3
  12. CDHR1-related retinopathy MONDO:0700375 CDHR1 3
  13. RPGR-related retinopathy MONDO:0100437 RPGR 3
  14. CRX-related retinopathy MONDO:1040064 CRX 2
  15. GUCA1A-related retinopathy MONDO:0700376 GUCA1A 2
  16. IMPDH1-related retinopathy MONDO:1040051 IMPDH1 2
  17. NMNAT1-related retinopathy MONDO:0800101 NMNAT1 2
  18. Oguchi disease MONDO:0019152 2
  19. PDE6C-related retinopathy MONDO:1040028 PDE6C 2
  20. RDH5-related retinopathy MONDO:0100443 RDH5 2
  21. RHO-related retinopathy MONDO:0700380 RHO 2
  22. RPE65-related recessive retinopathy MONDO:0100368 RPE65 2
  23. SPATA7-related retinopathy MONDO:1040070 SPATA7 2
  24. Choroideremia MONDO:0010557 CHM 2
  25. ADAM9-related retinopathy MONDO:0800398 ADAM9 1
  26. AIPL1-related retinopathy MONDO:0100438 AIPL1 1
  27. ATF6-related retinopathy MONDO:0100447 ATF6 1
  28. BEST1-related dominant retinopathy MONDO:0700238 BEST1 1
  29. BEST1-related recessive retinopathy MONDO:0700239 BEST1 1
  30. CACNA2D4-related retinopathy MONDO:0700244 CACNA2D4 1
  31. CERKL-related retinopathy MONDO:0800401 CERKL 1
  32. CNGA1-related retinopathy MONDO:0800405 CNGA1 1
  33. CNGA3-related retinopathy MONDO:0800102 CNGA3 1
  34. CNGB1-related retinopathy MONDO:0800403 CNGB1 1
  35. CNGB3-related retinopathy MONDO:0100446 CNGB3 1
  36. ELOVL4-related maculopathy MONDO:0700227 ELOVL4 1
  37. EYS-related retinopathy MONDO:0800391 EYS 1
  38. FLVCR1-related retinopathy with or without ataxia MONDO:0100449 FLVCR1 1
  39. GNAT2-related retinopathy MONDO:0800392 GNAT2 1
  40. GPR179-related retinopathy MONDO:0800396 GPR179 1
  41. GRM6-related retinopathy MONDO:0800397 GRM6 1
  42. HGSNAT-related retinopathy MONDO:1040040 HGSNAT 1
  43. IDH3B-related retinopathy MONDO:0800393 IDH3B 1
  44. IMPG1-related dominant retinopathy MONDO:1040036 IMPG1 1
  45. IMPG1-related recessive retinopathy MONDO:1040037 IMPG1 1
  46. IMPG2-related dominant retinopathy MONDO:0700242 IMPG2 1
  47. IMPG2-related recessive retinopathy MONDO:0700241 IMPG2 1
  48. KCNV2-related retinopathy MONDO:1040063 KCNV2 1
  49. KIZ-related retinopathy MONDO:0700232 KIZ 1
  50. LCA5-related retinopathy MONDO:0100445 LCA5 1
  51. LRIT3-related retinopathy MONDO:1040035 LRIT3 1
  52. MAK-related retinopathy MONDO:0700229 MAK 1
  53. MERTK-related retinopathy MONDO:0800394 MERTK 1
  54. NYX-related retinopathy MONDO:0800407 NYX 1
  55. PCARE-related retinopathy MONDO:0800404 1
  56. PDE6A-related retinopathy MONDO:0700224 PDE6A 1
  57. PDE6G-related retinopathy MONDO:1040034 PDE6G 1
  58. PRPF31-related retinopathy MONDO:0800395 PRPF31 1
  59. PRPF8-related retinopathy MONDO:0700234 PRPF8 1
  60. RAB28-related retinopathy MONDO:0100448 RAB28 1
  61. RD3-related retinopathy MONDO:0700235 RD3 1
  62. RDH12-related recessive retinopathy MONDO:0800099 RDH12 1
  63. REEP6-related retinopathy MONDO:1040066 REEP6 1
  64. RP2-related retinopathy MONDO:0100442 RP2 1
  65. RPE65-related dominant retinopathy MONDO:0100452 RPE65 1
  66. SNRNP200-related dominant retinopathy MONDO:0800098 SNRNP200 1
  67. Sorsby fundus dystrophy MONDO:0007640 TIMP3 1
  68. TOPORS-related retinopathy MONDO:0700233 TOPORS 1
  69. TRPM1-related retinopathy MONDO:0800402 TRPM1 1
  70. TTLL5-related retinopathy MONDO:1040038 TTLL5 1
  71. Retinal dystrophies primarily involving Bruch's membrane MONDO:0001666 1
  72. MRCS syndrome MONDO:0016979
  73. RDH12-related dominant retinopathy MONDO:0800100 RDH12
  74. RP1-related dominant retinopathy MONDO:0800400 RP1
  75. RP1-related recessive retinopathy MONDO:0800399 RP1
  76. Revesz syndrome MONDO:0009990 TINF2
  77. X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0018495
  78. X-linked retinal dysplasia MONDO:0010722
  79. X-linked retinoschisis MONDO:0010725 RS1
  80. Aceruloplasminemia MONDO:0011426 CP
  81. Amaurosis-hypertrichosis syndrome MONDO:0008766
  82. Choroideremia-deafness-obesity syndrome MONDO:0010558
  83. Dystrophies primarily involving the retinal pigment epithelium MONDO:0001924
  84. Ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0015997
  85. Familial benign flecked retina MONDO:0009235 PLA2G5
  86. Foveal hypoplasia-presenile cataract syndrome MONDO:0016395
  87. Helicoid peripapillary chorioretinal degeneration MONDO:0007176 TEAD1
  88. Infantile cerebellar-retinal degeneration MONDO:0013802 ACO2
  89. Late-onset retinal degeneration MONDO:0011579 C1QTNF5
  90. Macular degeneration, early-onset MONDO:0014501 FBN2
  91. Microcephaly and chorioretinopathy 1 MONDO:0009624 TUBGCP6
  92. Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0007918 KIF11
  93. Microcornea-myopic chorioretinal atrophy MONDO:0014195 ADAMTS18
  94. Oligocone trichromacy MONDO:0019151
  95. Ornithine aminotransferase deficiency MONDO:0009796 OAT
  96. Pigmented paravenous retinochoroidal atrophy MONDO:0008246 CRB1
  97. Progressive bifocal chorioretinal atrophy MONDO:0010932
  98. Progressive retinal dystrophy due to retinol transport defect MONDO:0014060 RBP4
  99. Retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:0009978
  100. Retinal dystrophy in systemic or cerebroretinal lipidoses MONDO:0001925
  101. Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0014483 ITM2B
  102. Retinal dystrophy, X-linked, Gardner-Hardcastle type MONDO:0978292
  103. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641
  104. Retinoschisis of fovea MONDO:0009988
  105. Retinoschisis, autosomal dominant MONDO:0008382
  106. Vitreoretinal dystrophy MONDO:0001923

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