Table 1.

A summary of the ABCA4 phenocopies.

Phenocopy	Disease	Inheritance pattern	Associated phenotypes	References
ELOVL4	STGD2 and STGD3	Autosomal dominant	Macular pigmentary changes and flecks	[64,67]
PROM1	STGD4	Autosomal dominant	Cone-rod dystrophy Macular dystrophy Retinitis pigmentosa Bull’s eye maculopathy (BEM) Flecks	[32,65,68,69]
PRPH2	Pattern dystrophy	Autosomal dominant	Pattern dystrophy Fleck like lesions that can be confused with STGD1.	[70,71]
CRX	Cone-rod dystrophy	Autosomal dominant	BEM	[72,73]
BEST1	Bestrophinopathies	Autosomal recessive Autosomal dominant	Widespread vitelliform flecks in autosomal recessive Adult vitelliform lesion in autosomal dominant	[74,75]
CDH3	Macular dystrophy	Autosomal recessive	Juvenile onset macular dystrophy with associated hyptrichosis of scalp hair	[76,77]
Hydroxychloroquine retinopathy	Bull’s eye maculopathy	Drug toxicity	Bull’s eye maculopathy	[58]