Table 1 Clinical composition of the molecularly diagnosed cohort and genetically solved fraction by clinical subtype
From: Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
Inherited retinal dystrophies (ORPHA 71862) | Total number (cases/families) | Solved cohort (number of cases/families) |
|---|---|---|
Isolated progressive inherited retinal disorder (ORPHA 519306) | 940/770 | |
Non-syndromic retinitis pigmentosa (ORPHA 791) | 558/447 | 410 (73%) / 306 (68%) |
Stargardt disease (ORPHA 827) | 118/105 | 107 (91%) / 94 (90%) |
Cone and cone-rod dystrophy (ORPHA 1872) | 112/92 | 63 (56%) / 50 (54%) |
Leber congenital amaurosis spectrum (LCA, ECORD, SECORD) (ORPHA 65) | 41/38 | 35 (85%) / 32 (84%) |
Non-specific macular dystrophy | 35/29 | 16 (46%) / 9 (31%) |
Pattern dystrophy (ORPHA 63454) | 32/27 | 14 (44%) / 8 (30%) |
Best vitelliform macular dystrophy (ORPHA 1243) | 27/18 | 24 (89%) / 15 (83%) |
Retinitis Punctata Albescens (ORPHA 52427) | 7/7 | 6 (86%) / 6 (86%) |
Late-Onset Retinal Degeneration (ORPHA 67042) | 7/4 | 5 (71%) / 2 (50%) |
North Carolina macular dystrophy (ORPHA 75327) | 2/2 | 0 (0%) / 0 (0%) |
Sorsby fundus dystrophy (59181) | 1/1 | 1 (100%) / 1 (100%) |
Syndromic inherited retinal disorder (ORPHA 519325) | 254/217 | |
Usher syndrome (ORPHA 886) | 96/84 | 78 (81%) / 68 (81%) |
Bardet-Biedl syndrome (ORPHA 110) | 37/30 | 36 (97%) / 29 (97%) |
Pseudoxanthoma elasticum (ORPHA 758) | 30/25 | 25 (83%) / 20 (80%) |
Syndromic inherited retinal disorder — other (ORPHA 519325)* | 31/28 | 28 (90%) / 26 (93%) |
Senior-Loken syndrome (ORPHA 3156) | 9/7 | 9 (100%) / 7 (100%) |
Cuticular drusen/C3 glomerulopathy (ORPHA 329918) | 7/7 | 0 (0%) / 0 (0%) |
Alport syndrome (ORPHA 63) | 5/5 | 5 (100%) / 5 (100%) |
Hallervorden-Spatz syndrome (ORPHA 157850) | 6/5 | 4 (67%) / 4 (80%) |
NARP syndrome (ORPHA 644) | 6/4 | 6 (100%) / 4 (100%) |
Maternally-inherited diabetes and deafness (ORPHA 225) | 5/4 | 5(100%) / 4 (100%) |
PHARC syndrome (ORPHA 171848) | 5/3 | 3 (60%) / 2 (67%) |
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (ORPHA 550) | 5/3 | 5 (100%) / 3 (100%) |
Hypotrichosis with juvenile macular dystrophy (ORPHA 1573) | 4/4 | 4 (100%) / 4 (100%) |
Kearns-Sayre syndrome (ORPHA 480) | 4/4 | 3 (75%) / 3 (75%) |
Knobloch syndrome (ORPHA 1571) | 4/4 | 3 (75%) / 3 (75%) |
Isolated stationary inherited retinal disorder (ORPHA 519319) | 42/36 | |
Achromatopsia (ORPHA 49382) | 20/17 | 19 (95%) / 16 (94%) |
Fundus albipunctatus (ORPHA 227796) | 11/9 | 8 (73%) / 6 (67%) |
Congenital stationary night blindness (ORPHA 215) | 10/9 | 9 (90%) / 8 (89%) |
Familial drusen/malattia leventinese (ORPHA 75376) | 1/1 | 0 (0%) / 0 (0%) |
Chorioretinal dystrophies (ORPHA 519300) | 30/21 | |
Choroideremia (ORPHA 180) | 11/5 | 8 (73%) / 3 (60%) |
Central areolar choroidal dystrophy (ORPHA 75377) | 8/7 | 5 (63%) / 4 (57%) |
Bietti crystalline dystrophy (ORPHA 41751) | 6/5 | 2 (33%) / 2 (40%) |
Gyrate atrophy of choroid and retina (ORPHA 414) | 4/3 | 4 (100%) /3 (100%) |
Pigmented paravenous retinochoroidal atrophy (ORPHA 251295) | 1/1 | 0 (0%) / 0 (0%) |
Inherited vitreous dystrophies (ORPHA 519304) | 48/34 | |
X-linked retinoschisis (ORPHA 792) | 24/18 | 24 (100%) / 18 (100%) |
Wagner syndrome (ORPHA 898) | 10/7 | 10 (100%) / 7 (100%) |
Stickler syndrome (ORPHA 828) | 9/6 | 8 (89%) / 5 (83%) |
Goldmann-Favre syndrome/ESCS (ORPHA 53540) | 4/2 | 4 (100%) / 4 (100%) |
Autosomal dominant vitreoretinochoroidopathy (ORPHA 3086) | 1/1 | 1 (100%) /1 (100%) |
Other rare disorders of the posterior segment of the Eye (ORPHA 519311) | 55/47 | |
Ocular (ORPHA 284804) and oculocutaneous (ORPHA 55) albinism | 22/20 | 16 (73%) / 14 (70%) |
Foveal hypoplasia (ORPHA 519398) | 22/16 | 18 (82%) / 12 (75%) |
Coloboma (ORPHA 98942) | 7/7 | 3 (43%) / 3 (43%) |
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (ORPHA 251279) | 4/4 | 3 (75%) / 3 (75%) |
