Journal of Ophthalmology

Research Article

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Table 2

Clinical summary of Japanese patients with autosomal dominant retinitis pigmentosa with heterozygous RHO mutations.


Patient, gender	Type of adRP	Age at examination	Mutation	BCVA		Electroretinograms (ERGs)		Reference	Notes
Patient, gender	Type of adRP	Age at examination	Mutation	R	L	Flash (rod plus cone) ERG	Full-field ERG	Reference	Notes

Case , M	Classic	44	p.P347L	0.5	0.66	NR	NR in 30-Hz flicker	[23, 32]	Cataract
Case , F	Classic	20	p.P347L	1.0	1.0	NR	NR in 30-Hz flicker	[23, 32]
Case , F	ND	11	p.P347L	1.0	1.0	Reduced	Reduced in 30-Hz flicker	[23, 32]
Case , F	Classic	75	p.P347L	LP	LP	NR	NR in 30-Hz flicker	[23, 32]	Severe cataract
III-6, M	Sector	49	p.T17M	0.2	0.2	ND	Reduced in both rods and cones	[23, 33]	B-CME, L-CNV
Proband, F	Classic	39	p.E181K	0.1	0.1	ND	NR in rods, reduced in cones	[20]	B-CME
III-5, F	Sector	52	p.N15S	ND	ND	ND	ND	[24]
II-2, M	Sector	66	p.G106R	0.04	0.5	ND	Reduced in both rods and cones	[25]	R-CME
III-1, F	Sector	44	p.G106R	1.2	1.2	ND	Reduced in rods, normal in cones	[25]
III-2, F	Sector	40	p.G106R	1.2	1.2	ND	Reduced in rods, normal in cones	[25]
II-2 (FN.1), M	Sector	58	p.W126L	1.5	0.7	ND	Reduced in both rods and cones	Current study
III-1 (FN.1), F	Sector	31	p.W126L	1.5	1.2	ND	Reduced in both rods and cones	Current study
II-1 (FN.2), F	Classic	35	p.A346P	0.7	0.6	ND	NR in both rods and cones	Current study
III-1 (FN.2), M	ND	14	p.A346P	1.2	1.5	Reduced	ND	Current study

BCVA = decimal best-corrected visual acuity; R = right eye; L = left eye; B = both eyes; M = male; F = female; FN = family number; ND = not described or not done; NR = nonrecordable; LP = light perception; CNV = choroidal neovascularization; and CME = cystoid macular edema.