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Inherited retinal dystrophy
MONDO:0019118An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.
Also known as: fundus dystrophy, familial retinal dystrophy, genetic retinal dystrophy, hereditary retinal degeneration, hereditary retinal dystrophy, inherited retinal dystrophy, retinal dystrophy
524 clinical trials for this condition and its sub-types, 41 tagged with Inherited retinal dystrophy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
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Sub-types of Inherited retinal dystrophy
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Age-related macular degeneration 190 trials · 334 incl. sub-types
15 sub-types
- Wet macular degeneration 159 trials
- Dry age related macular degeneration 91 trials
- Age related macular degeneration 1 0 trials
- Age related macular degeneration 10 0 trials
- Age related macular degeneration 11 0 trials
- Age related macular degeneration 12 0 trials
- Age related macular degeneration 14 0 trials
- Age related macular degeneration 2 0 trials
- Age related macular degeneration 4 0 trials
- Age related macular degeneration 6 0 trials
- Age related macular degeneration 7 0 trials
- Age related macular degeneration 8 0 trials
- Age related macular degeneration 9 0 trials
- Macular degeneration, age-related, 3 0 trials
- Macular dystrophy with central cone involvement 0 trials
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Retinitis pigmentosa 84 trials · 89 incl. sub-types
101 sub-types
- Retinitis pigmentosa 3 7 trials
- Retinitis pigmentosa 4 5 trials
- Retinitis pigmentosa 11 4 trials
- Retinitis pigmentosa 39 3 trials
- Retinitis pigmentosa 1 1 trial
- Retinitis pigmentosa 25 1 trial
- Retinitis pigmentosa 37 1 trial
- Retinitis pigmentosa 40 1 trial
- Retinitis pigmentosa 45 1 trial
- Retinitis pigmentosa 47 1 trial
- Retinitis pigmentosa Y-linked 1 trial
- Autosomal recessive pericentral pigmentary retinopathy 0 trials
- Cone-rod dystrophy 15 0 trials
- Cone-rod dystrophy 16 0 trials
- Cone-rod dystrophy 2 0 trials
- Dominant pericentral pigmentary retinopathy 0 trials
- Late-adult onset retinitis pigmentosa 0 trials
- Retinal dystrophy and obesity 0 trials
- Retinitis pigmentosa 10 0 trials
- Retinitis pigmentosa 100 0 trials
- Retinitis pigmentosa 12 0 trials
- Retinitis pigmentosa 13 0 trials
- Retinitis pigmentosa 14 0 trials
- Retinitis pigmentosa 17 0 trials
- Retinitis pigmentosa 18 0 trials
- Retinitis pigmentosa 19 0 trials
- Retinitis pigmentosa 2 0 trials
- Retinitis pigmentosa 20 0 trials
- Retinitis pigmentosa 22 0 trials
- Retinitis pigmentosa 23 0 trials
- Retinitis pigmentosa 24 0 trials
- Retinitis pigmentosa 26 0 trials
- Retinitis pigmentosa 27 0 trials
- Retinitis pigmentosa 28 0 trials
- Retinitis pigmentosa 29 0 trials
- Retinitis pigmentosa 30 0 trials
- Retinitis pigmentosa 31 0 trials
- Retinitis pigmentosa 32 0 trials
- Retinitis pigmentosa 33 0 trials
- Retinitis pigmentosa 34 0 trials
- Retinitis pigmentosa 35 0 trials
- Retinitis pigmentosa 36 0 trials
- Retinitis pigmentosa 38 0 trials
- Retinitis pigmentosa 41 0 trials
- Retinitis pigmentosa 42 0 trials
- Retinitis pigmentosa 43 0 trials
- Retinitis pigmentosa 44 0 trials
- Retinitis pigmentosa 46 0 trials
- Retinitis pigmentosa 48 0 trials
- Retinitis pigmentosa 49 0 trials
- Retinitis pigmentosa 50 0 trials
- Retinitis pigmentosa 51 0 trials
- Retinitis pigmentosa 53 0 trials
- Retinitis pigmentosa 54 0 trials
- Retinitis pigmentosa 55 0 trials
- Retinitis pigmentosa 56 0 trials
- Retinitis pigmentosa 57 0 trials
- Retinitis pigmentosa 58 0 trials
- Retinitis pigmentosa 59 0 trials
- Retinitis pigmentosa 6 0 trials
- Retinitis pigmentosa 60 0 trials
- Retinitis pigmentosa 61 0 trials
- Retinitis pigmentosa 62 0 trials
- Retinitis pigmentosa 63 0 trials
- Retinitis pigmentosa 64 0 trials
- Retinitis pigmentosa 65 0 trials
- Retinitis pigmentosa 66 0 trials
- Retinitis pigmentosa 67 0 trials
- Retinitis pigmentosa 68 0 trials
- Retinitis pigmentosa 69 0 trials
- Retinitis pigmentosa 7 0 trials
- Retinitis pigmentosa 7, digenic 0 trials
- Retinitis pigmentosa 70 0 trials
- Retinitis pigmentosa 71 0 trials
- Retinitis pigmentosa 72 0 trials
- Retinitis pigmentosa 73 0 trials
- Retinitis pigmentosa 74 0 trials
- Retinitis pigmentosa 75 0 trials
- Retinitis pigmentosa 76 0 trials
- Retinitis pigmentosa 77 0 trials
- Retinitis pigmentosa 78 0 trials
- Retinitis pigmentosa 79 0 trials
- Retinitis pigmentosa 80 0 trials
- Retinitis pigmentosa 81 0 trials
- Retinitis pigmentosa 83 0 trials
- Retinitis pigmentosa 84 0 trials
- Retinitis pigmentosa 85 0 trials
- Retinitis pigmentosa 86 0 trials
- Retinitis pigmentosa 87 with choroidal involvement 0 trials
- Retinitis pigmentosa 88 0 trials
- Retinitis pigmentosa 9 0 trials
- Retinitis pigmentosa 90 0 trials
- Retinitis pigmentosa 92 0 trials
- Retinitis pigmentosa 93 0 trials
- Retinitis pigmentosa 94, variable age at onset 0 trials
- Retinitis pigmentosa 95 0 trials
- Retinitis pigmentosa 96 0 trials
- Retinitis pigmentosa 97 0 trials
- Retinitis pigmentosa 98 0 trials
- Retinitis pigmentosa 99 0 trials
- Retinitis pigmentosa with or without situs inversus 0 trials
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Hereditary macular dystrophy 3 trials · 72 incl. sub-types
17 sub-types
- Familial flecked retinopathy 0 trials · 45 incl. sub-types Sub-types →
- Macular corneal dystrophy 13 trials
- Vitelliform macular dystrophy 6 trials · 10 incl. sub-types Sub-types →
- Cone dystrophy 4 trials Sub-types →
- AICA-ribosiduria 1 trial
- Macular dystrophy, retinal 1 trial Sub-types →
- EEM syndrome 0 trials
- Benign concentric annular macular dystrophy 0 trials
- Coloboma of macula 0 trials
- Coloboma of macula-brachydactyly type B syndrome 0 trials
- Macular coloboma-cleft palate-hallux valgus syndrome 0 trials
- Macular dystrophy with or without cone dysfunction 0 trials
- Macular dystrophy, X-linked 0 trials
- Macular dystrophy, fenestrated sheen type 0 trials
- Occult macular dystrophy 0 trials
- Patterned dystrophy of the retinal pigment epithelium 0 trials Sub-types →
- Renal hypomagnesemia 5 with ocular involvement 0 trials
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Cone-rod dystrophy 17 trials · 21 incl. sub-types
28 sub-types
- X-linked cone-rod dystrophy 0 trials · 2 incl. sub-types Sub-types →
- Cone-rod dystrophy 10 1 trial
- Cone-rod dystrophy 6 1 trial
- Leber congenital amaurosis 4 0 trials
- Newfoundland cone-rod dystrophy 0 trials
- Cone dystrophy 3 0 trials
- Cone-rod dystrophy 1 0 trials
- Cone-rod dystrophy 11 0 trials
- Cone-rod dystrophy 12 0 trials
- Cone-rod dystrophy 13 0 trials
- Cone-rod dystrophy 14 0 trials
- Cone-rod dystrophy 15 0 trials
- Cone-rod dystrophy 16 0 trials
- Cone-rod dystrophy 17 0 trials
- Cone-rod dystrophy 18 0 trials
- Cone-rod dystrophy 19 0 trials
- Cone-rod dystrophy 2 0 trials
- Cone-rod dystrophy 20 0 trials
- Cone-rod dystrophy 21 0 trials
- Cone-rod dystrophy 22 0 trials
- Cone-rod dystrophy 24 0 trials
- Cone-rod dystrophy 3 0 trials
- Cone-rod dystrophy 5 0 trials
- Cone-rod dystrophy 7 0 trials
- Cone-rod dystrophy 8 0 trials
- Cone-rod dystrophy 9 0 trials
- Macular degeneration, X-linked atrophic 0 trials
- Retinal cone dystrophy 4 0 trials
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Leber congenital amaurosis 11 trials · 13 incl. sub-types
21 sub-types
- Leber congenital amaurosis 2 3 trials
- Leber congenital amaurosis 10 2 trials
- Leber congenital amaurosis 5 2 trials
- Leber congenital amaurosis 1 1 trial
- Leber congenital amaurosis 11 0 trials
- Leber congenital amaurosis 12 0 trials
- Leber congenital amaurosis 13 0 trials
- Leber congenital amaurosis 14 0 trials
- Leber congenital amaurosis 15 0 trials
- Leber congenital amaurosis 16 0 trials
- Leber congenital amaurosis 17 0 trials
- Leber congenital amaurosis 18 0 trials
- Leber congenital amaurosis 19 0 trials
- Leber congenital amaurosis 3 0 trials
- Leber congenital amaurosis 4 0 trials
- Leber congenital amaurosis 6 0 trials
- Leber congenital amaurosis 7 0 trials
- Leber congenital amaurosis 8 0 trials
- Leber congenital amaurosis 9 0 trials
- Leber congenital amaurosis with early-onset deafness 0 trials
- Retinal aplasia 0 trials
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ABCA4-related retinopathy 7 trials · 13 incl. sub-types
3 sub-types
- Severe early-childhood-onset retinal dystrophy 10 trials
- Cone-rod dystrophy 3 0 trials
- Retinitis pigmentosa 19 0 trials
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RPE65-related recessive retinopathy 5 trials · 8 incl. sub-types
2 sub-types
- Leber congenital amaurosis 2 3 trials
- Retinitis pigmentosa 20 0 trials
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BEST1-related dominant retinopathy 1 trial · 7 incl. sub-types
1 sub-type
- Vitelliform macular dystrophy 2 7 trials
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RHO-related retinopathy 0 trials · 7 incl. sub-types
2 sub-types
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RPGR-related retinopathy 0 trials · 7 incl. sub-types
3 sub-types
- Retinitis pigmentosa 3 7 trials
- X-linked cone-rod dystrophy 1 0 trials
- Macular degeneration, X-linked atrophic 0 trials
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Choroideremia 6 trials
2 sub-types
- Choroideremia hypopituitarism 0 trials
- Total central choroidal atrophy 0 trials
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X-linked retinoschisis 4 trials
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PRPF31-related retinopathy 1 trial · 4 incl. sub-types
1 sub-type
- Retinitis pigmentosa 11 4 trials
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RLBP1-related retinopathy 2 trials · 3 incl. sub-types
3 sub-types
- Fundus albipunctatus 1 trial Sub-types →
- Bothnia retinal dystrophy 0 trials
- Newfoundland cone-rod dystrophy 0 trials
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ELOVL4-related maculopathy 0 trials · 3 incl. sub-types
1 sub-type
- Stargardt disease 3 3 trials
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Revesz syndrome 2 trials
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Late-onset retinal degeneration 2 trials
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EYS-related retinopathy 1 trial · 2 incl. sub-types
1 sub-type
- Retinitis pigmentosa 25 1 trial
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LCA5-related retinopathy 1 trial · 2 incl. sub-types
1 sub-type
- Leber congenital amaurosis 5 2 trials
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PRPH2-related retinopathy 1 trial · 2 incl. sub-types
7 sub-types
- Fundus albipunctatus 1 trial Sub-types →
- Leber congenital amaurosis 18 0 trials
- Choroidal dystrophy, central areolar 2 0 trials
- Patterned macular dystrophy 1 0 trials
- Retinitis pigmentosa 7 0 trials
- Retinitis pigmentosa 7, digenic 0 trials
- Vitelliform macular dystrophy 3 0 trials
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BEST1-related recessive retinopathy 0 trials · 2 incl. sub-types
1 sub-type
- Autosomal recessive bestrophinopathy 2 trials
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AIPL1-related retinopathy 1 trial
1 sub-type
- Leber congenital amaurosis 4 0 trials
-
Retinoschisis of fovea 1 trial
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ATF6-related retinopathy 0 trials · 1 incl. sub-types
1 sub-type
- Achromatopsia 7 1 trial
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CNGB1-related retinopathy 0 trials · 1 incl. sub-types
1 sub-type
- Retinitis pigmentosa 45 1 trial
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FLVCR1-related retinopathy with or without ataxia 0 trials · 1 incl. sub-types
1 sub-type
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GUCY2D retinopathy 0 trials · 1 incl. sub-types
3 sub-types
- GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types Sub-types →
- Cone-rod dystrophy 6 1 trial
- GUCY2D-related dominant retinopathy 0 trials Sub-types →
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RDH5-related retinopathy 0 trials · 1 incl. sub-types
1 sub-type
- Fundus albipunctatus 1 trial Sub-types →
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ADAM9-related retinopathy 0 trials
1 sub-type
- Cone-rod dystrophy 9 0 trials
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CACNA1F-related retinopathy 0 trials
3 sub-types
- Aland island eye disease 0 trials
- X-linked cone-rod dystrophy 3 0 trials
- Congenital stationary night blindness 2A 0 trials
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CACNA2D4-related retinopathy 0 trials
1 sub-type
- Retinal cone dystrophy 4 0 trials
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CDHR1-related retinopathy 0 trials
3 sub-types
- Cone-rod dystrophy 15 0 trials
- Macular dystrophy, retinal, 5 0 trials
- Retinitis pigmentosa 65 0 trials
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CERKL-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 26 0 trials
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CNGA1-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 49 0 trials
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CNGA3-related retinopathy 0 trials
1 sub-type
- Achromatopsia 2 0 trials
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CRX-related retinopathy 0 trials
2 sub-types
- Leber congenital amaurosis 7 0 trials
- Cone-rod dystrophy 2 0 trials
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GNAT2-related retinopathy 0 trials
1 sub-type
- Achromatopsia 4 0 trials
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GPR179-related retinopathy 0 trials
1 sub-type
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GRM6-related retinopathy 0 trials
1 sub-type
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GUCA1A-related retinopathy 0 trials
2 sub-types
- Cone dystrophy 3 0 trials
- Cone-rod dystrophy 14 0 trials
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HGSNAT-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 73 0 trials
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IDH3B-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 46 0 trials
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IMPDH1-related retinopathy 0 trials
2 sub-types
- Leber congenital amaurosis 11 0 trials
- Retinitis pigmentosa 10 0 trials
-
IMPG1-related dominant retinopathy 0 trials
1 sub-type
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IMPG1-related recessive retinopathy 0 trials
1 sub-type
- Vitelliform macular dystrophy 4 0 trials
-
IMPG2-related dominant retinopathy 0 trials
1 sub-type
- Vitelliform macular dystrophy 5 0 trials
-
IMPG2-related recessive retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 56 0 trials
-
KCNV2-related retinopathy 0 trials
1 sub-type
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KIZ-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 69 0 trials
-
LRIT3-related retinopathy 0 trials
1 sub-type
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MAK-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 62 0 trials
-
MERTK-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 38 0 trials
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MRCS syndrome 0 trials
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NMNAT1-related retinopathy 0 trials
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NYX-related retinopathy 0 trials
1 sub-type
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Oguchi disease 0 trials
2 sub-types
- Oguchi disease-1 0 trials
- Oguchi disease-2 0 trials
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PCARE-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 54 0 trials
-
PDE6A-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 43 0 trials
-
PDE6C-related retinopathy 0 trials
1 sub-type
- Cone dystrophy 4 0 trials Sub-types →
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PDE6G-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 57 0 trials
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PROM1-related retinopathy 0 trials
3 sub-types
- PROM1-related dominant retinopathy 0 trials Sub-types →
- PROM1-related recessive retinopathy 0 trials Sub-types →
- Cone-rod dystrophy 12 0 trials
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PRPF8-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 13 0 trials
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RAB28-related retinopathy 0 trials
1 sub-type
- Cone-rod dystrophy 18 0 trials
-
RD3-related retinopathy 0 trials
1 sub-type
- Leber congenital amaurosis 12 0 trials
-
RDH12-related dominant retinopathy 0 trials
-
RDH12-related recessive retinopathy 0 trials
1 sub-type
- Leber congenital amaurosis 13 0 trials
-
REEP6-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 77 0 trials
-
RP1-related dominant retinopathy 0 trials
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RP1-related recessive retinopathy 0 trials
-
RP2-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 2 0 trials
-
RPE65-related dominant retinopathy 0 trials
1 sub-type
-
1 sub-type
- Retinitis pigmentosa 33 0 trials
-
SPATA7-related retinopathy 0 trials
2 sub-types
- Leber congenital amaurosis 3 0 trials
- Retinitis pigmentosa 94, variable age at onset 0 trials
-
Sorsby fundus dystrophy 0 trials
1 sub-type
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TOPORS-related retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 31 0 trials
-
TRPM1-related retinopathy 0 trials
1 sub-type
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TTLL5-related retinopathy 0 trials
1 sub-type
- Cone-rod dystrophy 19 0 trials
-
X-linked retinal dysplasia 0 trials
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Aceruloplasminemia 0 trials
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Amaurosis-hypertrichosis syndrome 0 trials
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Familial benign flecked retina 0 trials
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Macular degeneration, early-onset 0 trials
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Microcephaly and chorioretinopathy 1 0 trials
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Oligocone trichromacy 0 trials
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1 sub-type
- Basal laminar drusen 0 trials
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Retinoschisis, autosomal dominant 0 trials
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Vitreoretinal dystrophy 0 trials
Most studied deeper sub-types
Stargardt disease
(35)
Bietti crystalline corneoretinal dystrophy
(9)
Adult-onset foveomacular vitelliform dystrophy
(2)
Blue cone monochromacy
(2)
Retinitis punctata albescens
(1)
Achromatopsia 5
(0)
Butterfly-shaped pigment dystrophy
(0)
Choroidal dystrophy, central areolar, 1
(0)
Cone dystrophy, X-linked, with tapetal-like sheen
(0)
Doyne honeycomb retinal dystrophy
(0)
Fundus pulverulentus
(0)
Kandori fleck retina
(0)
Macular dystrophy, retinal, 3
(0)
Macular dystrophy, retinal, 4
(0)
Multifocal pattern dystrophy simulating fundus flavimaculatus
(0)
Night blindness, congenital stationary, type1i
(0)
North Carolina macular dystrophy
(0)
Patterned macular dystrophy
(0)
Patterned macular dystrophy 2
(0)
Patterned macular dystrophy 3
(0)
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New eye injection shows promise for rare Blindness-Causing gene mutation
Disease control CompletedThis early-stage study tested the safety of a new drug called VP-001, given as an injection into the eye, for people with a rare genetic eye disease (PRPF31 mutation) that causes vision loss. Six participants aged 12 and older received multiple doses. The main goal was to check f…
Phase 1 • Sponsor: PYC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New eye injection shows promise for rare Blindness-Causing gene mutation
Disease control CompletedThis early-stage study tested a new drug, VP-001, given as an injection into the eye to see if it is safe for people with a rare genetic eye disease caused by a PRPF31 mutation. Seventeen adults took part. The main goal was to check for side effects, not to measure vision improve…
Phase 1 • Sponsor: PYC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Experimental eye injection aims to restore sight in rare blindness conditions
Disease control CompletedThis study tested an experimental drug called KIO-301, given as an injection into the eye, in 32 adults with retinitis pigmentosa or choroideremia—two inherited conditions that cause progressive vision loss. The main goal was to check safety and tolerability at increasing doses. …
Phase 1/2 • Sponsor: Kiora Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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AI eye doctor: new tool aims to spot rare retinal diseases
Diagnosis CompletedThis study tested an artificial intelligence (AI) system called Retina4IRD that helps doctors diagnose inherited retinal diseases, which are rare eye conditions that can cause vision loss. The AI looks at eye images and patient information to suggest which gene might be causing t…
Sponsor: Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 11:01 UTC
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New registry tracks vision loss in rare eye diseases
Knowledge-focused CompletedThis study collects information from about 889 people with inherited retinal diseases (IRDs) to understand how vision changes over time. Participants have their eyesight and visual field tested regularly. The goal is to learn more about the natural course of these rare eye condit…
Sponsor: Janssen Research & Development, LLC • Aim: Knowledge-focused
Last updated Aug 30, 2026 00:00 UTC
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Tiny study tests Super-Camera to spot retina damage early
Knowledge-focused CompletedThis study tested a new type of camera that can see individual cells in the retina, which standard clinical cameras cannot do. Five people with retinal disease (inherited degeneration or toxicity) had their eyes scanned with the device. The goal was to compare image quality and o…
Sponsor: Indiana University • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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French study maps genetic landscape of inherited eye diseases
Knowledge-focused CompletedThis study collected information from nearly 1,000 people in France with inherited retinal diseases (IRDs) to better understand the genetics behind these conditions. Researchers looked at genetic test results and disease types to help build a national registry. The goal is to imp…
Sponsor: University Hospital, Strasbourg, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC