A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots

Author:

Yamamoto Hiroyuki,Yakushijin Kimikazu,Kusuhara Sentaro,Escaño Michael Francis T.,Nagai Azusa,Negi Akira

Publisher

Elsevier BV

Subject

Ophthalmology

Reference5 articles.

1. Mutations in the gene encoding 11-cis retinol dehydrogenase caused delayed dark adaptation and fundus albipunctatus;Yamamoto;Nat Gent,1999

2. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene;Nakamura;Invest Ophthalmol Vis Sci,2000

3. Fundus albipunctatus cum Hemeralopia congenita;Hiroe;J Jpn Ophthalmol Soc,1943

4. Die sogenannte Retinitis punctata albescens;Lauber;Klin Monatsbl Augenheilkd,1910

5. Mutations in 11-cis retinal dehydrogenase emmbrane anchor region cause a form of fundus albipunctatus with fading spots;Kurz;Invest Ophthalmol Vis Sci,2000

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