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Christina Eckmann-Hansen, Cecilia Rönnbäck, Birgit Sander, Michael Larsen; Bruch’s membrane opening diameter in autosomal dominant optic atrophy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1871.
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© ARVO (1962-2015); The Authors (2016-present)
Autosomal dominant optic atrophy (ADOA) is associated with centrocecal visual field defects, subnormal visual acuity and thickness of the retinal nerve fiber and ganglion cell layers and pallor of the optic disc. Subnormal optic disc dimensions have been reported in some, but not all ADOA genotypes. The purpose of the present study was to assess the size of the Bruch’s membrane opening, a key feature of the optic nerve disc, in subjects with OPA1 c.2826_2836delinsGGATGCTCCA mutation compared to first-degree relatives.
The study included 47 ADOA patients with OPA1 c.2826_2836delinsGGATGCTCCA mutation and 54 first-degree relatives without the mutation. The groups were of comparable age distribution, and mean age was 37.9 (range 8-83) years. Bruch’s membrane opening diameter was measured in 6 directions using Heidelberg Spectralis optical coherence tomography. The primary study parameter was the mean of all 6 diameters. Associations between Bruch’s membrane opening diameter and age, gender, axial length and best corrected visual acuity was analyzed using Student’s t-test and linear regression.
The mean Bruch's membrane opening diameter was 1477 (range 1299-1905) µm in ADOA patients and 1494 (range 1210-1811) µm in first-degree relatives. No statistically significant difference between the two groups was found (P=0.4). In ADOA patients, the mean diameter of Bruch's membrane opening increased by 21.7 µm per 10 years of age (p=0.018), whereas no such effect was found in the non-ADOA first-degree relatives (numerical increase of 3.6 µm per 10 years; P=0.8). No significant association was found between mean opening diameter and axial length in ADOA (P=0.5), or in healthy relatives (P=0.9). No significant association was found between mean opening diameter and gender or best corrected visual acuity in the two groups (P>0.5).
This study of ADOA found no difference in Bruch’s membrane opening diameter between ADOA patients and non-ADOA first-degree relatives. The contrasting findings of the present study of optic disc dimensions and a previous one that included a broad range of ADOA genotypes could hypothetically be, that the structural effects of ADOA are mutation-specific. The increase in Bruch’s membrane opening diameter with age in the ADOA patients was of a relatively small magnitude and remains to be explained.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
Measurement of Bruch's membrane opening in optical coherence tomography.
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