From: The socioeconomic epidemiology of inherited retinal diseases in Portugal
INHERITED RETINAL DYSTROPHIES (ORPHA 71,862) | NUMBER | % |
---|---|---|
Isolated Progressive Inherited Retinal Disorder (ORPHA 519,306) | 795 | 73.5 |
Non-syndromic retinitis pigmentosa (ORPHA 791) | 484 | 44.8 |
Cone and cone-rod dystrophy (ORPHA 1872) | 136 | 12.6 |
Stargardt disease (ORPHA 827) | 90 | 8.3 |
Leber congenital amaurosis (ORPHA 65) | 44 | 4.1 |
Best vitelliform macular dystrophy (ORPHA 1243) | 14 | 1.3 |
Pattern dystrophy (ORPHA 63,454) | 12 | 1.1 |
Non-specific macular dystrophy | 10 | 0.9 |
Retinitis punctata albescens (ORPHA 52,427) | 4 | 0.4 |
Sorsby macular dystrophy (ORPHA 59,181) | 1 | 0.1 |
Syndromic Inherited Retinal Disorder (ORPHA 519,325) | 163 | 15.1 |
Syndromic retinitis pigmentosa (ORPHA 519,325) | 152 | 14.1 |
Maternally-Inherited Diabetes and Deafness (ORPHA 225) | 4 | 0.4 |
Pseudoxanthoma elasticum (ORPHA 758) | 3 | 0.3 |
Hypotrichosis with juvenile macular dystrophy (ORPHA 1573) | 2 | 0.2 |
Papillorenal syndrome (ORPHA 1475) | 1 | 0.1 |
Sjogren-Larsson syndrome (ORPHA 816) | 1 | 0.1 |
Isolated Stationary Inherited Retinal Disorder (ORPHA 519,319) | 40 | 3.7 |
Achromatopsia (ORPHA 49,382) | 19 | 1.8 |
Early-Onset “Drusenoid” Macular Dystrophies (ORPHA 75,376) | 11 | 1.0 |
Fundus albipunctatus (ORPHA 227,796) | 8 | 0.7 |
Congenital Stationary Night Blindness (ORPHA 215) | 2 | 0.2 |
Chorioretinal Dystrophies (ORPHA 519,300) | 35 | 3.2 |
Choroideremia (ORPHA 180) | 14 | 1.3 |
Gyrate atrophy of choroid and retina (ORPHA 414) | 7 | 0.6 |
Central areolar choroidal dystrophy (ORPHA 75,377) | 6 | 0.6 |
Bietti crystalline retinopathy (ORPHA 41,751) | 4 | 0.4 |
Non-specific chorioretinal dystrophy | 4 | 0.4 |
Inherited vitreous dystrophies (ORPHA 519,304) | 27 | 2.5 |
X-linked retinoschisis (ORPHA 792) | 23 | 2.1 |
Enhanced S Cone Syndrome/Goldmann-Favre (ORPHA 53,540) | 4 | 0.4 |
Other Rare Disorders of the Posterior Segment of the Eye (ORPHA 519,311) | 21 | 1.9 |
Ocular and oculocutaneous (ORPHA 284,804 e 55) albinism | 16 | 1.5 |
Foveal hypoplasia (ORPHA 519,398) | 4 | 0.4 |
Posterior microphthalmos | 1 | 0.1 |