Skip to main content

View full-text article in PMC

. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962

Table 1. Phenotype and genotype of the family members.

Family Member	Age	Gender	Disease Duration (years)	Visual Acuity (OD, OS)	Mutation(s)		Original reports described
					Nucleotide change	Effect
I1	43	M	0	20/20, 20/20	1819G>A	Gly 607 Arg	Andrea Rivera
I2	43	F	0	20/20, 20/20	2424C>G	Tyr 808*	N/A
II1	13	M	3	20/400, 20/400	1819G>A/2424C>G	Gly 607 Arg,/Tyr 808*	Andrea Rivera,N/A
II2	18	F	8	20/400, 20/400	1819G>A/2424C>G	Gly 607 Arg,/Tyr 808*	Andrea Rivera,N/A
II3	20	F	0	20/20, 20/20	1819G>A	Gly 607 Arg	Andrea Rivera

N/A, Not available; M, Male; F, Female.