Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions

Table 3 List of prioritized candidates according to the clinical phenotype or X-linked pattern of inheritance

Main candidate gene	Disease
CNGB3, CNGA3	Achromatopsia
RHO	adRP
VMD2	Best disease
CYP4V2	Bietti crystalline dystrophy
RDS/PRPH2	Central areolar choroidal dystrophy
CHM	Choroideremia
LRPO5, FZD4, TSAPN12	Familiar exudative vitreoretinopathy
RDH5, RLBP1	Fundus albipunctatus
NR2E3	Goldman-Favre-Enhanced S-cone syndrome
CEP290	LCA
MFRP	Nanophthalmia
NDP	Norrie disease
SAG	Oguchi disease
RS1	Retinoschisis
RECQL4	Rothmund-Thompson syndrome
ABCA4, RDS/PRPH2	Stargardt disease
USH2A	Usher syndrome
VCN	Wagner syndrome
RPGR	XLCD, XLCRD
RPGR, RP2	XLRP, RP simplex

adRP: Autosomal dominant retinitis pigmentosa; LCA: Leber congenital amaurosis; XLCD: X-linked cone dystrophy; XLCRD: X-linked cone-rod dystrophy; XLRP: X-linked retinitis pigmentosa.