Table 1 List and ORPHA numbers of the clinical diagnoses covered by the IRD-PT module

1. ISOLATED PROGRESSIVE INHERITED RETINAL DISORDER (ORPHA 519306)

3. SYNDROMIC INHERITED RETINAL DISORDER (ORPHA 519325)

5. CHORIORETINAL DYSTROPHIES (ORPHA 519,300)

1.1 Retinitis punctata albescens (ORPHA 52427)

3.1. Alström syndrome (ORPHA 64)

5.1. Bietti crystalline dystrophy (ORPHA 41751)

1.2. ARB (ORPHA 139455)

3.2. Jalili syndrome (ORPHA 1873)

5.2. CACD (ORPHA 75377)

1.3. Cone/cone-rod dystrophy (ORPHA 1872)

3.3. Senior-Loken syndrome (ORPHA 3156)

5.3. Choroideremia (ORPHA 180)

1.4. Late-onset retinal degeneration (ORPHA 67042)

3.4. Joubert syndrome (ORPHA 475)

5.4. Gyrate atrophy of choroid and retina (ORPHA 414)

1.5. Leber congenital amaurosis (ORPHA 65)

3.5. Usher syndrome (ORPHA 886)

5.5. Helicoid peripapillary chorioretinal degeneration (ORPHA 86813)

1.6. Retinitis Pigmentosa AR

(ORPHA 791)

3.6. Bardet-Biedl syndrome (ORPHA 110)

5.6. Pigmented paravenous retinochoroidal atrophy (ORPHA 251295)

1.7. Retinitis Pigmentosa AD

(ORPHA 791)

3.7. Hallervorden-Spatz syndrome (ORPHA 157850)

6. HEREDITARY OPTIC NEUROPATHY (ORPHA 98671)

1.8. Retinitis pigmentosa XL

(ORPHA 791)

3.8. Syndromic retinitis pigmentosa—other (ORPHA 519325)

6.1. Autosomal dominant optical atrophy (ORPHA 98672)

1.9. Isolated macular dystrophy (ORPHA 519302)

3.9. Kearns-Sayre syndrome (ORPHA 480)

6.2. Leber hereditary optic atrophy (ORPHA 104)

1.9.1. Sorsby fundus dystrophy (59181)

3.10. PXE (ORPHA 758)

6.3. Hereditary optic neuropathy—other (98671)

1.9.2. Stargardt disease (ORPHA 827)

3.11. Alport Syndrome (ORPHA 63)

1.9.3. Best vitelliform macular dystrophy (ORPHA 1243)

3.12. MIDD (ORPHA 225)

7. OTHER RARE DISORDERS OF THE POSTERIOR SEGMENT OF THE EYE (ORPHA 519311)

1.9.4. North Carolina macular dystrophy (ORPHA 75327)

3.13. Cuticular drusen/C3 Glomerulopathy (ORPHA 329918)

7.1. Foveal hypoplasia (ORPHA 519398)

1.10. Pattern dystrophy (ORPHA 63454)

4. INHERITED VITREOUS DYSTROPHIES (ORPHA 519304)

7.2. Coloboma (ORPHA 98942)

1.10.1. Butterfly-shaped pigment dystrophy (ORPHA 99001)

4.1. X-linked retinoschisis (ORPHA 792)

7.3. Ocular albinism (ORPHA 284804)

1.10.2. MFD simulating fundus flavimaculatus (ORPHA 99003)

4.2. Stickler syndrome (ORPHA 828)

7.4. Oculocutaneous albinism (ORPHA 55)

1.10.3. Reticular dystrophy of the RPE (ORPHA 99002)

4.3. Wagner disease (ORPHA 898)

7.5. Other

1.10.4. AOFVD (ORPHA 99000)

4.4. FFEVR (OPRHA 891)

2. ISOLATED STATIONARY INHERITED RETINAL DISORDER (ORPHA 519319)

4.5. Goldmann-Favre syndrome/ESCS

2.1. Achromatopsia (ORPHA 49382)

4.6. ADVIRC (ORPHA 3086)

2.2. CSNB (ORPHA 215)

2.3. Fundus albipunctatus (ORPHA 227796)

2.4. Familial drusen/Malattia leventinese (ORPHA 75376)