. Author manuscript; available in PMC: 2014 Jun 2.

Published in final edited form as: Ophthalmology. 2010 Apr 24;117(8):1538–1546.e1. doi: 10.1016/j.ophtha.2009.12.038

Table 1. Molecular and Clinical Characteristics of OPA1 Positive Pedigrees Identified in the North of England.

Pedigree	cDNA Change	Consequence	Affected^a N =	Examined N =	Age of Onset (Yrs)		Snellen BCVA

					Mean	Range	Mean	Range
OA-1	c.1212+3a>t	Splicing defect	3	3	4.7	4.0-5.0	20/417	20/160-CF
OA-2	c.870+5g>a	Splicing defect	4	3	10.0	8.0-12.0	20/210	20/30 - CF
OA-3^{b, c}	c.876-878delTGT^*	p.V294fsX667	3	1	5.0	N/A	CF	N/A
OA-4^{b, c}	c.876-878delTGT^*	p.V294fsX667	10	6	6.0	4.0-11.0	20/167	20/40 - CF
OA-5^{b, c}	c.876-878delTGT^*	p.V294fsX667	7	3	5.0	5.0	20/197	20/200 - 20/400
OA-6	c.2818+5g>a^*	Splicing defect	4	3	5.3	5.0-6.0	20/93	20/40 - 20/200
OA-7	c.2708_2711delTTAG	p.V903fsX3	2	1	5.0	N/A	20/200	N/A
OA-8^{b, c}	c.2713C>T	p.R905X	3	3	14.0	11.0-16.0	20/273	20/60 - CF
OA-9^{b, c}	c.2713C>T	p.R905X	2	1	5.0	N/A	20/80	N/A
OA-10^{b, c}	c.2713C>T	p.R905X	3	2	5.0	5.0	20/200	20/200
OA-11	c.2613+1g>a	Splicing defect	3	3	7.0	3.0-10.0	20/160	20/120 - CF
OA-12	c.1516+1g>t	Splicing defect	4	3	15.0	15.0	20/53	20/20 - 20/200
OA-13	c.794_797delTTGA	p.I265fsX42	3	1	15.0	N/A	20/40	N/A
OA-14	c.636_637delAG^*	p.K214fsX2	3	1	8.0	N/A	20/40	N/A
OA-15	c.889C>T^*	p.Q297X	3	3	5.0	5.0	20/107	20/20 - CF
OA-16	c.1635C>G	p.S545R	3	3	3.7	1.0-5.0	20/1170	20/200 - HM
OA-17	c.1198C>T^*	p.P400S	1	1	2.0	N/A	HM	N/A
OA-18	Exons 1 -5b deletion^*	p.M1fsX208	3	4	7.3	5.0-9.0	20/130	20/60 - 20/200

	Entire Study Cohort		64	45	7.0	1.0-16.0	20/207	20/20 - HM

Affected individuals resident in the north of England,

^{b, c}

Shared OPA1 haplotype,

Novel OPA1 mutations,

BCVA: Best corrected visual acuity, CF: Counting fingers, HM: Hand movement, N/A: Not applicable, Yrs: Years.