Table 1.

Retinal Disease Genes Screened for Mutations and the Phenotypes Associated With These Genes

Genes Screened	Location	Gene Accession Number	Chromosome	Associated Diagnosis
ABCA4	1p22.1	NM_000350.2	1	Pattern dystrophy, cone-rod dystrophy
				Recessive retinitis pigmentosa
BEST1	11q12.3	NM_004183.3	11	Best macular dystrophy
CRX	19q13.32		19	Dominant cone-rod dystrophy
CTRP5	11q23.3	NM_001278431.1	11	Late-onset retinal degeneration
EFEMP1	2p16.1	NM_001039348.2	2	Doyne honeycomb retinal dystrophy
ELOVL4	6q14.1	NM_022726.3	6	Autosomal dominant Stargardt's-like macular dystrophy
GUCY2D	17p13.1	NM_000180.3	17	Dominant cone-rod dystrophy
PRPH2	6p21.1	NM_000322.4	6	Pattern dystrophy, cone-rod dystrophy
				Macular degeneration
TIMP3	22q12.3	NM_000362.4	22	Sorsby fundus dystrophy