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T. Yamakoshi, Y. Ito, M. Nakamura, H. Terasaki, Y. Miyake; Optical coherence tomographic evaluation of macula and optic disc in patients with autosomal dominant optic atrophy associated with OPA1 mutations . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2815.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To determine the morphological changes in the macular area and in the optic disc of patients with autosomal dominant optic atrophy (DOA) using optical coherence tomography 3 (OCT3). Methods: Retinal cross–sectional scans (5 mm vertical and horizontal) in the macular area were recorded in patients with DOA (16 eyes in 8 patients from 5 families, 5 men and 3 women, average age 44.4 yrs) using OCT3. All patients had a heterozygous mutation in the OPA1 gene. The thickness of total neural retina, retinal nerve fiver layer (RNFL), and photoreceptor layer outer segment was measured at 9 points (fovea, 1 mm and 2 mm temporal, nasal, superior and inferior from the fovea) manually. Circular scans (3.4 mm in diameter) centered on optic disc were taken and horizontal cross–sections of the optic disc in the DOA patients were also recorded. The results in the DOA patients were compared to those from 6 normal controls. Results: The total neural retinal thickness in the DOA patients was significantly thinner than that of controls at all points except for the fovea (P<0.05). The thickness of the outer segments of the photoreceptors in the DOA patients was not significantly different from that of the controls. The RNFL thickness in the macula and around optic disc in the DOA patients was significantly thinner than that of controls (P<0.0001), and the RNFL was almost undetectable in the macular area. Horizontal cross–sections of the optic disc demonstrated a shallow depression without apparent loss of temporal neuroretinal rim in most DOA patients. Conclusions: In DOA associated with OPA1 gene mutations, the neural retina, especially the RNFL, was thinner than in controls. Secondary degeneration in the outer segments of the photoreceptors was not detected. The optic disc cup was mildly depressed.
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