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H. Yamamoto, K. Yakushijin, S. Kusuhara, A. Nagai, Y. Tamura, A. Azumi, Y. Tsukahara, M. Ito, T. Matsui, A. Negi; A Novel Mutation in the RDH5 Gene in a Patient with Macular Dystrophy without White Punctata . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1472.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in a 76-years-old man with macular dystrophy without white punctata who was described in detail 59 years earlier (J Jpn Ophthalmol Soc. 47, 1475-1485, 1943). In 1943, at 17 years of age, the fundus demonstrated a typical fundus albipunctatus without macular dystrophy. Methods: Direct genomic sequencing of leukocyte DNA sample was used to detect mutations of the RDH5 coding exons (exons2-5) in the patient. A complete ophthalmic examination was performed including best-corrected visual acuity, Goldmann visual field testing, slit-lamp examination, indirect ophthalmoscopy, fundus photography, and multifocal electroretinogram (mERG). Results: In the patient, a novel homozygous missense mutation Val164Phe (GTC to TTC) in RDH5 was detected. Fundus examination showed atrophic macular lesion without white dots in both eyes. Kinetic visual field testing showed a ring scotoma in both eyes with preserved peripheral visual field. The responses of mERG indicated localized dysfunction in the central macula. Conclusion: In the patient with fundus albipunctatus in young age caused by the novel mutation of the RDH5 gene, the white dots became disappeared, and the macular dystrophy appeared with age. It will be difficult to diagnose the difference between fundus albipunctatus and macular dystrophy in the older patients, and probably only genetic examination can make the diagnosis.
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