TABLE 1.

Clinical and molecular characteristics of affected and unaffected family members studied.

Patient no. /sex	Age at visit (Y)	Age at first symptoms (Y)	Age at diagnosis (Y)	Nucleotide change at c.1105 C>T	Zygosity	Nucleotide change at c.1791G>T	Zygosity	Visual acuity at diagnosis OD/OS	Refraction OD, OS	Goldmann Visual Field (V4e) at diagnosis	Full-field ERG at diagnosis
II-1/M	72	n/a	n/a	C/T	Heterozygous	G/T	Heterozygous	20/25, 20/25	Piano, piano	NP, NP	NP, NP
II-2/F	67	n/a	n/a	C/T	Heterozygous	G/T	Heterozygous	20/20, 20/20	Piano, piano	NP, NP	NP, NP
III-1/F	47	19	24	T/T	Homozygous	T/T	Homozygous	20/40-1, 20/60-2	−2.00 + 3.25 × 094, −2.00 + 3.25 × 083	Central 10° island   with inferotemporal   crescent   OU (IV4e)	Not measurable   to all stimuli OU
III-2/M	44	19	27	T/T	Homozygous	T/T	Homozygous	20/25-1, 20/32-1	−3.50 + 1.75 × 110, −3.75 + 1.75 × 060	Central 15° island   with inferotemporal   crescent OU	Not measurable   to all stimuli OU
III-3/M	43	42	29	T/T	Homozygous	T/T	Homozygous	20/25 + 2, 20/25 + 1	−8.75 + 3.50 × 105, −8.75 + 3.25 × 075	Full OU;   Midperipheral   scotoma temporally   to I4e OU	Cone greater   than rod   dysfunction OU

Y, years; OD, right eye; OS, left eye; OU, both eyes; M, male; F, female; n/a, not applicable; NP, not performed.

Visual acuity represents best spectacle-corrected acuity.