Table 1.

Clinical and Molecular Characteristics of Affected and Unaffected Family Members Studied

			Measurement in Right Eye, Left Eye
Patient No./ Sex/Age at Visit, y	Nucleotide Changes at c.1381, No.	Protein Change of Q461Stop	Visual Acuity^a	Refraction	Axial Length	Color Vision TCDS/CCI	Desaturated Color Vision TES/CCI^b
III-1/F/64	C/T	Heterozygous	20/32, 20/20	−3.00+1.00×005, plano+0.40×180	23.57, 23.53	129.2/1.10, 117/1.00	32/1.23, 32/1.23
III-2/M/73	C/T	Heterozygous	20/20, 20/20	Plano, plano	NP	NP	NP
IV-1/F/45	T/T	Homozygous	20/1008, 20/800	−11.00 DS, −11.00 DS	23.29, 23.31	449.5/3.84, 382.4/3.27	NP
IV-2/F/37	C/T	Heterozygous	20/25, 20/25	NP, NP	NP	NP	NP
IV-3/F/36	T/T	Homozygous	20/160, 20/100	−2.00+1.00×120, −2.00+1.25×085	23.70, 23.70	Unable	Unable
IV-4/F/32	T/T	Homozygous	20/40, 20/100	−11.00+3.00×100, −10.50+3.00×085	24.73, 24.87	335.9/2.87, 347.6/2.97	NP
IV-5/F/25	C/T	Heterozygous	20/20, 20/20	Plano, plano	NP	NP	NP
V-1/M/21	NP	NP	20/16, 20/16	−0.25 DS, −0.25 DS	23.48, 23.69	117/1.00, 125.4/1.10	48/1.34, 0/1.00

Abbreviations: CCI, color confusion index (calculated as the total color difference score [TCDS] of the subject divided by the normal TCDS); NP, not performed; TES, total error score.

Visual acuity represents the best spectacle-corrected acuity.

A normal TES is lower than the 95% confidence level, which is 109 for age 64 years and 51 for age 21 years.