Table 1

Optic nerve features of 29 patients from 12 families with OPA1 ADOA in whom clinical examination data and review of disc photographs were carried out

								No of eyes
Pedigree	Mutation or linkage	Location in OPA1 gene: Exon/intron	Predicted protein domain affected	Affected individuals with photographs	Mean age at exam (years)	Age range at exam (years)	Best VA range	With temporal disc pallor	With total disc pallor	With temporal pigment crescent	With PPA	With CDR>0.5
VA = visual acuity in Snellen. PPA = peripapillary atrophy. CDR = cup to disc ratio. *OPA1 mutation not detected on screening.
Putative protein domains OPA1- highly basic mitochondrial leader domain: exons 1-2. Coiled-coil domain 5b, 6, 7. GTPase domain: 8-15. Dynamin central domain: 16-24. Coiled coil C-terminal: 27, 28.
C5	Nonsense Arg38stop	exon 7	Coiled coil	II-3, III-3, III-4	24	12-45	6/18-6/60	4	2	0	5	2
G1	Splice site Skip exon 8	exon 8	Dynamin related GTPase	III-7, III-9, III-10	31	28-34	6/9-6/18	4	2	1	5	2
P1	Splice site IVS9del(+1-5)	intron 9		V-2, V-3	30	26-34	6/9- 6/24	2	2	2	2	2
A1	Splice site Skip exon 12	intron 12		III-12, IV-14, IV-15	12	2-28	6/12-4/60	4	2	2	4	2
B1	Missense Thr503Lys	exon 15		III-9, III-12, IV-13, IV-15	52	23-68	6/24-HM	4	4	2	5	4
L1	Missense Thr503Lys	exon 15		V-2, V-5, VI-4	37	17-52	6/24-1/60	4	2	3	3	4
K1	Deletion Glu617fs	exon 20	Dynamin central	IV-11, V-1, V-4	44	36-61	6/18-6/60	4	2	3	6	3
T1	Deletion Glu687fs	exon 21		III-1, IV-3	45	36-52	6/36-6/60	0	4	1	2	2
B3	Deletion Val902fs	exon 27	Coiled coil C-terminal	III-1	31	NA	6/36	0	2	2	2	2
F3	Splice site IVS27+6t>c/ IVS26-10c>g	intron 27		V-2	42	NA	6/18	0	2	0	2	1
C7	Deletion Val902fs	exon 27		III-1	35	NA	6/18	2	0	0	0	0
H1	Lod score to chromosome3 markers: 3.91	*		II-1, III-2, III-3	34	24-52	6/18-6/60	2	4	2	4	4

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy

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