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Veronika Vaclavik, Francis L Munier, Daniel F Schorderet, Hoai Viet Tran; Mutation in EYS gene causes variable expressivity, ranging from Leber Congenital Amaurosis to adult onset Retinitis Pimentosa. Autofluorescence Study.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2894.
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© ARVO (1962-2015); The Authors (2016-present)
To determine genotype/phenotype correlation of EYS gene related autosomal recessive retinitis pigmentosa. The purpose of this study is to report a variable expressivity and an unusual appearance of fundus autofluorescence (AF).<br />
Six affected patients from 6 families underwent complete ophthalmological examination, inluding ISCEV standard full field ERGs, fundus photography, autofluorescence imaging (AF), optical coherence tomography (OCT) and kinetic visual field. Comprehensive gene screening was performed using a combined approach of different generation of DNA microarray analysis and direct sequencing.<br />
Four novel mutations and two previously described mutations in EYS were identified in 6 families. The youngest affected patient was diagnosed with LCA during the first years of his life. He had nystagmus and VA was less than 3/60. Another young patient was diagnosed with early onset retinal dystrophy aged 4. Fundus examination revealed a range of retinal disorder from normal to optic nerve pallor, attenuated arterial caliber and bone spicule-like pigment deposits. In all patients, AF showed a double hyperfluorescent ring, in 4 patients a third ring was visible on wide field imaging.
Mutations in Eys gene causes retinitis pigmentosa as well as LCA and Early Onset Retinal Dystrophy, previously unreported. A double and triple hyperfluorescent ring on AF is an uncommon observation and might be a specific clinical finding. Further analysis and a longitudinal study is required to determine the significance of those rings.<br />
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