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13.
Retinal structure, function, and molecular pathologic features in gyrate atrophy
Sergouniotis, Panagiotis I. ...
Purpose: To describe phenotypic variability and to report novel mutational data in patients with gyrate atrophy. Design: Retrospective case series. Participants: Seven unrelated patients (10 to 52 ...years of age) with clinical and biochemical evidence of gyrate atrophy. Methods: Detailed ophthalmologic examination, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography, and microperimetry testing were performed. The coding region and intron-exon boundaries of ornithine aminotransferase (OAT) were analyzed. OAT mRNA was isolated from peripheral blood leucocytes of 1 patient and analyzed. Main outcomes Measures: OAT mutation status and resultant clinical, structural, and functional characteristics. Results: Funduscopy revealed circular areas of chorioretinal atrophy, and FAF imaging showed sharply demarcated areas of increased or preserved signal in all 7 patients. Spectral-domain optical coherence tomography revealed multiple intraretinal cystic spaces and hyperreflective deposit in the ganglion cell layer of all study subjects. Round tubular, rosette-like structures located in the outer nuclear layer of the retinae of the 4 older patients were observed (termed outer retinal tubulation). Thickening was evident in the foveolae of younger patients, despite the posterior pole appearing relatively preserved. Macular function, assessed by microperimetry, was preserved over areas of normal or increased autofluorescence. However, sensitivity was reduced even in structurally intactparts of the retina. The molecular pathologic features were determined in all study subjects: 9 mutations, 4 novel, were detected in the OAT gene. OAT mRNA was isolated from blood leukocytes, and monoallelic expression of a mutated allele was demonstrated in 1 patient. Conclusions: Fundus autofluorescence imaging can reveal the extent of neurosensory dysfunction ingyrate atrophy patients. (Abs. trunc. at 2000 ch.)
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