Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Acta Ophthalmologica Scandinavica
Takaaki HayashiKenji Kitahara

Abstract

To describe the clinical features and genetic analysis of a 3-year-old boy diagnosed with familial fleck retina with night blindness. The proband and his parents and grandparents were included. History, visual acuity and fundus examinations were evaluated. Bright-flash (rod-plus-cone) electroretinograms (ERGs) were recorded after 30 mins and 180 mins of dark adaptation. Mutation screening of the RDH5 gene encoding 11-cis retinol dehydrogenase was performed. The parents noticed the proband's night blindness when he was 2 years old. Best corrected visual acuity was 1.0 in both eyes. Fundus examinations revealed numerous yellow-white flecks of varying size and shape throughout the midperipheral to far peripheral retina in both eyes. The distribution, size and shape of the flecks were comparable to those seen in familial fleck retina with night blindness, rather than fundus albipunctatus. The ERGs showed extremely diminished responses after 30 mins of dark adaptation, but there were substantial increases in the amplitudes of both a- and b-waves when recorded after 180 mins of dark adaptation. Although a total of 19 RDH5 mutations have been found only in patients with fundus albipunctatus, compound heterozygous mutations, p.V177G an...Continue Reading

References

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Aug 11, 2004·Archives of Ophthalmology·Makoto NakamuraYozo Miyake
Nov 9, 2004·American Journal of Ophthalmology·Takaaki HayashiKenji Kitahara

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Citations

Apr 2, 2020·Investigative Ophthalmology & Visual Science·Satoshi KatagiriTadashi Nakano
May 1, 2021·Journal of Clinical Medicine·Tadao MaedaMasayo Takahashi
Nov 7, 2021·Japanese Journal of Ophthalmology·Shinji Ueno, Satoshi Okado
May 3, 2011·Ophthalmology·Panagiotis I SergouniotisAndrew R Webster

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