Imaging of the Macula Indicates Early Completion of Structural Deficit in Autosomal-Dominant Optic Atrophy

TY - JOUR

T1 - Imaging of the Macula Indicates Early Completion of Structural Deficit in Autosomal-Dominant Optic Atrophy

AU - Rönnbäck, Cecilia

AU - Milea, Dan

AU - Larsen, Michael

PY - 2013/12

Y1 - 2013/12

N2 - Purpose 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). Design Cross-sectional study. Participants 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). Methods 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). Main Outcome Measures Perifoveal GC-IPL thickness. Results 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. Conclusions 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. Financial Disclosure(s) The authors have no proprietary or commercial interest in any of the materials discussed in this article.

AB - Purpose 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). Design Cross-sectional study. Participants 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). Methods 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). Main Outcome Measures Perifoveal GC-IPL thickness. Results 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. Conclusions 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. Financial Disclosure(s) The authors have no proprietary or commercial interest in any of the materials discussed in this article.

U2 - 10.1016/j.ophtha.2013.08.008

DO - 10.1016/j.ophtha.2013.08.008

M3 - Journal article

C2 - 24120325

SN - 0161-6420

VL - 120

SP - 2672

EP - 2677

JO - Ophthalmology

JF - Ophthalmology

IS - 12

ER -