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Ulrich Kellner, Simone Kellner, Silke Weinitz, Gazaleh Farmand, Heidi Stoehr, Bernhard Weber; Follow-up Of 36 Years In Autosomal Dominant Gyrate-Atrophy Like Choroidal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):669.
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To report the long-term course in a family of autosomal dominant gyrate-atrophy like choroidal dystrophy and the results of molecular genetic testing.
We initially reported a family with an affected father and two affected sons with autosomal dominant gyrate-atrophy like choroidal dystrophy [Kellner et al 1997]. The father was lost two follow-up due to stroke and one son due to brain tumor. The second son could be re-examined at different time intervals since 1994. In addition to clinical examination he underwent visual field testing, multifocal and full-field ERG recording according to ISCEV standards (RETIscan, Roland Consult, Germany), high resolution OCT (SD-OCT; Spectralis OCT, Heidelberg Engineering, Germany), wide-angle fundus and near-infrared autofluorescence (FAF, NIA; HRA2, Heidelberg Engineering, Germany) and molecular genetic testing.
The affected father showed severe choroidal atrophy with a residual visual field and a visual acuity of 0.1 at the age of 70 years. Both sons presented with marked peripapillary and midperipheral choroidal atrophy. Ornithin blood levels were normal in all patients. In the index patient first signs of choroidal atrophy nasal to the optic disc were documented at 19 years of age. 36 years later visual acuity was normal on both eyes. Choroidal atrophy had progressed circumferentially involving the peripapillary part of the macula. FAF, NIA and SD-OCT were normal in the non-affected areas, with a sharp border towards the affected areas. Affected areas showed absence of FAF, NIA and a complete loss of outer retinal structures in the SD-OCT. Visual field loss and ERG amplitude reduction progressed corresponding to the slow advance of choroidal atrophy. RetChip v1.0 based genetic testing of 43 genes known to be associated in retinal dystrophies identified a heterozygous, probably pathogenic missense mutation in PDE6A (rs114973968), a gene associated with autosomal recessive retinitis pigmentosa.
Autosomal dominant gyrate-atrophy like choroidal dystrophy shows a slow progression with preservation of the foveal area until late adulthood. Molecular genetic findings are currently insufficient to clarify the molecular basis of this rare retinal dystrophy.
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