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Cecilia Rönnbäck, Michael Larsen; Ganglion Cell-Inner Plexiform Layer Thickness and Retinal Nerve Fiber Layer Thickness in Patients with Autosomal Dominant Optic Atrophy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1206.
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To assess ganglion cell-inner plexiform layer (GC-IPL) thickness and retinal nerve fiber layer (RNFL) thickness in patients with autosomal dominant optic atrophy (ADOA) and healthy unaffected family members using spectral-domain optical coherence tomography.
The study included 49 patients, aged 8-71 years, with ADOA from 15 different families with the exon 28 (2826delT) mutation in OPA1 and 51 family members without this mutation and without a history of eye disease. Participants underwent an ophthalmic examination and Cirrus HD-OCT (Zeiss Meditech, Jena, Germany). Data are presented as means and 95% confidence intervals (CI95) of the right eye. Absolute fundus dimension were estimated using Littmann’s formula. Results were corrected for age and gender in a multiple regression analysis.
Sectoral macular GC-IPL thickness was uniformly thinner in ADOA than in controls (p<0.0001, all sectors). Seen from the center of the fovea, the attenuation was most pronounced in the inferonasal (48.7 (46.9-50.4) µm versus 79.7 (78.0-81.4) µm) and the superonasal sectors (48.8 (47.0-50.7) µm versus 81.5 (79.7-83.3) µm). Seen from the center of the optic disc, peripapillary RNFL thicknesses was uniformly thinner in all quadrants in patients with ADOA (p<0.0001) and most pronouncedly so for the temporal quadrant. In ADOA patients, GC-IPL thickness decreased with decreasing visual acuity in four out of six sectors (p≤0.019). For ADOA patients, GC-IPL thickness was below the lower CI95 limit of controls in all sectors.
In a mutationally homogeneous OPA1 ADOA population SD-OCT is a highly sensitive and specific method of identifying subjects who carry the mutation and hence have Kjer disease. Diagnostic difficulties are likely to occur only in mutation carriers with normal or near-normal visual acuity.
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