Table 3 The phenotypes encountered in the study were grouped into 13 clinical diagnosis categories along with percentage of patients in each category and sex distribution

Bardet-Biedl Syndrome

Bardet-Biedl syndrome

11 (1.10%)

7

Bestrophinopathies

Best’s vitelliform macular dystrophy, autosomal recessive bestrophinopathy, Adult-onset vitelliform macular dystrophy

27 (2.80%)

10

Cone dystrophy

Cone dystrophy

2 (0.20%)

2

Cone-Rod dystrophy

Cone-rod dystrophy, Enhanced S-cone syndrome

25 (2.60%)

17

Congenital stationary night blindness

Congenital stationary night blindness (complete or incomplete), fundus albipunctatus

2 (0.20%)

2

Chorioretinal dystrophy

Central areolar choroidal dystrophy, choroideremia, gyrate atrophy, pigmented paravenous chorioretinal dystrophy, Bietti’s crystalline retinopathy, late-onset retinal dystrophy

10 (1.00%)

3

Leber’s Congenital Amaurosis

Leber’s Congenital Amaurosis

10 (1.00%)

6

Macular dystrophy, other

Occult macular dystrophy

2 (0.20%)

1

Retinitis pigmentosa, isolated

Retinitis pigmentosa (all inheritance forms), retinitis punctata albescens, pericentral and sector retinitis pigmentosa

769 (79.20%)

459

Retinitis pigmentosa, syndromic

Joubert syndrome, neuronal ceroid lipofuscinosis, Refsum syndrome

5 (0.50%)

4

Stargardt disease

Stargardt disease, flecked retina

62 (6.40%)

36

Usher’s syndrome

Usher’s syndrome (all types)

23 (2.40%)

12

X-linked retinoschisis

X-linked retinoschisis

8 (0.80%)

8