Table 2 Distribution of clinical diagnoses including the respective ORPHA numbers in the cohort

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