. Author manuscript; available in PMC: 2017 May 1.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2015 Aug 28;254(5):865–872. doi: 10.1007/s00417-015-3142-8

Table 1.

Clinical and Genetics Characteristics of the Study Cohort

Patient	Age, Gender	Race/Ethnicity	Snellen BCVA		Fundus Appearance		ABCA4 Mutation(s)
Patient	Age, Gender	Race/Ethnicity	OD	OS	Color	AF	ABCA4 Mutation(s)
P1	53, M	Caucasian	20/20	20/20	Mottling + Flecks	Mottling + Flecks	c.[5461-10T>C]
P2	55, F	Caucasian	20/20	20/20	Mottling + Flecks	Mottling + Flecks	p. [A1357V]; [G1961E]
P3	57, M	African-American	20/20	20/20	BEM + Flecks	BEM + Flecks	p. [R2107H]
P4	10, F	Caucasian	20/30	20/25	BEM + Flecks	BEM + Flecks	p. [E160*]; [R1108C]
P5	26, F	African-American	20/30	20/20	Mottling + Flecks	Mottling + Flecks	p. [R2107]; [E526A]
P6	19, F	Asian-Caucasian	20/25	20/25	BEM	BEM	p. [R602W]
P7	26, M	African-Arab	20/20	20/20	BEM	BEM	p. [R1300*]; [R2106C]
P8	25, M	Caucasian	20/20	20/40	BEM	BEM	p. [Q1003*]; [G1961E]

Abbreviations: M, male; F, female; BCVA, best-corrected visual acuity; OD, right eye; OS, left eye; BEM, bull’s eye maculopathy