SDOCT Thickness Measurements of Various Retinal Layers in Patients with Autosomal Dominant Optic Atrophy due to OPA1 Mutations

Table 1

Clinical and genetic details of ADOA patients.

Case	Gender	OPA1 mutation	Age at examination (years)	Visual acuity (Snellen); OD/OS	Refraction (spherical equivalent); OD/OS	Visual fields	Disc appearance
1	m	c1299_1305del12bp	4	20/200/20/100	+2.4/+2.4	—	Temporal pallor
2	f	Duplication Exon 1 to 4b of OPA1 gene	11	20/40/20/125	−0.6/−0.5	Scotomas in the upper temporal fields	Temporal pallor
3	m	c.2614−9A>G	18	20/60/20/60	−2.0/−1.5	Scotomas in the upper fields	Temporal pallor
4	f	c.904A>C, p.Thr302Pro	26	20/100/20/125	−5.0/−5.5	Slight, unspecific defects	Temporal pallor
5	m	c.1979G>Ap.Trp660Stop heterozygous	28	20/60/20/60	+0.5/+1.0	Scotomas OS>OD especially in the upper temporal fields	Temporal pallor
6	m	c.2708_2711 del TTAG p.Val903GlyfsX3 heterozygous	43	20/125/20/100	−2.0/−2.9	Scotomas in the upper fields	Pale disc, especially temporally
7	f	c.2983+4 A>G	47	20/800/20/800	−10.5/−8.3	—	Pale disc, especially temporally

OD: right eye; OS: left eye.