Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Table 1

Family member phenotypes and genotypes.

Family member	Age (year)/sex	Onset age (year)	Visual acuity (OD/OS)	Fundus appearance	Mutation	Mutation type
I1	74/M		0.6/0.6^#	Normal	—	—
I2	72/F		0.6+/0.8+	Normal	c.437T<A (p.V146D)	Het
I4	83/F		0.5/0.5	Normal	c.437T<A (p.V146D)	Het
II2	52/F		1.0/1.0	Normal	c.437T<A (p.V146D)	Het
II3	62/F		0.8/0.8	Normal	—	—
III1	28/M	3	Light perception	PP and RVA	c.437T<A (p.V146D)	Hom
III2	19/F	3	Counting fingers	PP and RVA	c.437T<A (p.V146D)	Hom

PP: peripheral pigmentation; RVA: retinal vascular attenuation; RCA: retinal and choroidal atrophy; Hom: homozygous mutation; Het: heterozygous mutation. ^#Visual acuity of I: 1 was reduced due to the presence of age-related cataract.