Table 1.

Frequency distribution of the clinical diagnosis in the inherited retinal disease (IRD) patient dataset.

Clinical Diagnosis a	N	%
Retinitis pigmentosa (RP)	36	26.9
Leber congenital amaurosis (LCA)	25	18.7
Macular dystrophy (MD)	16	11.9
Cone-rod dystrophy (CRD)	14	10.4
Early onset retinal dystrophy (EORD)	9	6.7
Usher syndrome type II (USH2)	8	6.0
Achromatopsia (ACHM)	6	4.5
Congenital stationary night blindness (CSNB)	5	3.7
Retinal dystrophy (RD)	3	2.2
Usher syndrome type I (USH1)	2	1.5
Stargardt disease (STGD)	2	1.5
Occult macular dystrophy (OCMD)	1	0.7
Benign fleck retina (BFR)	1	0.7
Coloboma (COLOB)	1	0.7
Familial exudative vitreoretinopathy (FEVR)	1	0.7
Foveal hypoplasia (FH)	1	0.7
Myopia and deafness (Stickler syndrome) (STICKL)	1	0.7
Ocular albinism (OALB)	1	0.7
Optic atrophy (OATR)	1	0.7
Total	134	100.0

^a As assigned by a consultant ophthalmologist before performing whole-exome sequencing.