Table 2.

Clinical, SD-OCT, visual field and genotype findings in three mothers, carriers of XLRS.

Subject Number	Age (Years)	Snellen BCVA (ETDRS)	Macular appearance	Peripheral retinoschisis	Macular anatomy by SD- OCT	Extramacular midperipheral anatomy by SD-OCT	30-2 HVF	RS1 Genotype
Carrier 1 (Mother of Pt 1 and Pt 2)	43	20/20-1 (89) OD 20/20-2 (88) OS	Normal macula OU	Normal periphery OU	OD: slightly irregular foveal contour, no schisis OS: normal, no schisis	No schisis OU	Single paracentral defect OD, three paracentral defects OS	Heterozygous for the RS1 genotype for patients 1 and 2 in Table 1
Carrier 2 (Mother of Pt 4)	45	20/20+ (86) OD 20/20+ (87) OS	Normal macula OU	Normal periphery OU	OU: normal, no schisis	No schisis OU	No defects OU	Heterozygous for the RS1 genotype for patient 4 in Table 1
Carrier 3 (Mother of Pt 5)	37	20/16 (89) OD 20/20+2 (87) OS	Abnormal macular reflex OU	Normal periphery OU	OU: normal, no schisis	No schisis OU	Two paracentral defects OU	Heterozygous for the RS1 genotype for patient 5 in Table 1

BCVA- Best-corrected visual acuity, ETDRS- Early Treatment Diabetic Retinopathy Study, HVF- Humphrey visual field, RS1- Retinoschisin gene, Pt- Patient, SD-OCT- Spectral-domain optical coherence tomography, XLRS- X-linked retinoschisis