Table 3 Distribution of the likely causative genes in our IRD cohort.

From: Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

Clinical diagnosis

Solved cases/Total number of cases

Mutated genes (number of cases)

ar Retinitis Pigmentosa

3/4

USH2A (3)

simplex Retinitis Pigmentosa

8/17

USH2A (8)

Leber congenital amaurosis

1/1

LRAT (1)

Stargardt disease

1/3

ABCA4 (1)

Usher Syndrome

3/3

USH2A (3)

ar Cone dystrophy

1/1

CNGB3 (1)

  1. ar: Autosomal recessive.
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