Molecular Vision: Lesch, Mol Vis 2008; 14:1549-1558. Table 2

Table 2. Clinical data and molecular genetic examination results of the family with XLRS and our control group.

Patients/carriers number (Eye)	Mutation	Gender	Age (yrs)	Age of onset (yrs)	Macular abnormalities	BCVA	Spherical corrections (D)	OCT		Full-field ERG		Scot. max. b/a ratio	Multifocal ERG
Patients/carriers number (Eye)	Mutation	Gender	Age (yrs)	Age of onset (yrs)	Macular abnormalities	BCVA	Spherical corrections (D)	FTmax (μm)	TMV (mm3)	Scot. max. a-wave ampl. (μV)	Scot. max. b-wave ampl. (μV)	Scot. max. b/a ratio	Summed ampl. (μV)	Summed impl. (ms)
IV/1 (OD)	c.78+1G>C	male	7	7	foveal schisis	0.25	1.75	505	8.5	253	339	1.34	49	37
(OS)				7	foveal schisis	0.3	1.75	591	9.05	253	360	1.43	42	37
III/1 (OD)	c.78+1G>C	female	31	-	-	1	-	152	6.51	352	815	2.32	140	36
(OS)				-	-	1	-	156	6.5	372	811	2.18	145	35
III/2 (OD)	c.78+1G>C	male	25	6	foveal schisis	0.42	-	339	6.97	336	340	1.01	46	40
(OS)				6	foveal schisis	0.42	-	621	8.41	302	304	1	42	42
III/3 (OD)	-	male	25	-	-	1	-	152	6.74	-	-	-	-	-
(OS)				-	-	1	-	171	6.97	-	-	-	-	-
II/1 (OD)	c.78+1G>C	female	50	-	-	1	-	189	6.67	238	515	2.16	99	37
(OS)				-	-	1	-	175	6.67	291	560	1.92	94	37
Control (n=70)	-	50-50%	22±10	-	-	0.98±0.06	-	157±17	6.96±0.26	314±65	593±86	1.91±0.35	118±25	33±1

No patients displayed peripheral schisis. Patient IV/1 had the additional symptom of Mizuo-Nakamura phenomenon. Control values are means ± standard deviations (SD). YRS indicate years, BCVA represents best corrected visual acuity, D represents diopter, OCT represents optical coherence tomography, FTmax represents maximal foveal thickness, TMV represents total macular volume, and ERG represents electroretinography. The significantly increased FT and TMV values of OCT (p<0.05) and the significantly (p<0.05) decreased BCVA values, full-field and multifocal ERG amplitudes demonstrate well the morphological and functional impairment of the retina in case patients with XLRS.