Table 2. Patients clinical findings.

Case	Age	Visual acuity		Color vision Ishihara			IOP applanation (mmHg)		Ophthalmoscopy
		RE	LE	RE		LE	RE	LE	RE	LE
III-3	59	20/40	20/50	2/15			18		diffuse neurorim pallor C/D 0.3
III-9	58	<20/200		generalized deficit			16		temporal pallor C/D 0.6–0.7
III-11	56	<20/200		generalized deficit			20		optic atrophy C/D 0.6–0.7
III-13	51	<20/200		generalized deficit			14		temporal pallor C/D 0.6–0.7
IV-4	41	<20/200	20/15	0		3/15	40	12	optic atrophy C/D 0.6	subatrophy C/D 0.4
IV-7	20	20/20		15/15			21		>cupping C/D 0.5–0.6
IV-8	38	20/20		12/15		15/15	19	22	slight temporal pallor C/D 0.5–0.6	cupping CD0.6–0.7
IV-10	36	20/20		15/15			normal		normal
IV-22	33	20/40	20/70	generalized deficit			14		temporal pallor C/D 0.6–0.7
IV-26	25	<20/200		generalized deficit			16		temporal pallor C/D 0.3–0.4
IV-27	27	<20/200		generalized deficit			16		temporal pallor C/D 0.3–0.4
IV-28	41	20/70		4/15			16	17	diffuse neurorim pallor C/D: 0.4
IV-30	48	20/70	20/100	generalized deficit			15		normal cupping
V-1	10	20/40		4/15			np		temporal pallor C/D 0.3
V-3	9	20/100		generalized deficit			np		temporal pallor C/D 0.7
V-12	12	20/20		15/15			normal		slight temporal pallor. Normal cupping
V-14	17	20/50		12/15	10/15		18		diffuse neurorim pallor
V-15	21	N.A.		N.A.			N.A.		N.A.

The phenotypic features of seventeen family members with OPA1 mutation are shown. The numbering of patients in the first column is the same as in Figure 1. The second column indicates age at diagnosis (in years). The fourth column indicates results of the Ishihara color test (a test for color blindness). The fifth column indicates intra-ocular pressure with applanation. Abbreviations: C/D represents cup to disk ratio; IOP represents intra-ocular pressure; RE represents right eye; LE represents left eye; N.P. represents not performed; N.A. represents not available.