Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy.

Abstract

Optical coherence tomography (OCT) enables 3-dimensional imaging of the retina, including the layer of ganglion cells that supplies the optic nerve with its axons. We tested OCT as means of diagnosing and phenotyping autosomal-dominant optic atrophy (ADOA). Cross-sectional study. The study included 49 patients with OPA1 exon 28 (2826delT) ADOA (age, 8.6-71.5 years; best-corrected visual acuity [BCVA], 20/700-20/20) and 51 mutation-free first-degree relatives as healthy controls (BCVA 20/25-20/10). Participants underwent routine examination, including automated perimetry, and OCT with segmentation of the perifoveal retinal ganglion cell-inner plexiform layer (GC-IPL) and the peripapillary retinal nerve fiber layer (RNFL). Perifoveal GC-IPL thickness. All subjects with ADOA had a thinner GC-IPL in the inferonasal macula than the thinnest healthy control. The GC-IPL thickness was also subnormal in the superotemporal macula (P<0.0001), where it varied with visual acuity (P ≤ 0.03). Attenuation of the peripapillary nerve fiber layer was prominent on the temporal side of the optic disc in ADOA (P <0.0001), but there was considerable overlap with healthy controls. In ADOA, there was no detectable variation with age in BCVA, autoperimetry mean deviation, GC-IPL thickness, or RNFL thickness, except that the thickness of the superior RNFL quadrant decreased with age. Optical coherence tomography enabled a highly sensitive diagnosis of ADOA and identification of a structural correlate with the variation in visual acuity. The defect associated with the OPA1 exon 28 (2826delT) seems to be fully developed from early childhood or the perinatal period.