Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

Author:

Katsanis N,Shroyer NF,Lewis RA,Cavender JC,Al-Rajhi AA,Jabak M,Lupski JR

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Retinitis punctata albescens: a functional evaluation of an unusual case;Krill;Am J Ophth,1962

2. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus;Wada;Inv Ophth Vis Sci,2000

3. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus;Yamamoto;Nature Genet,1999

4. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens;Morimura;Inv Ophth Vis Sci,1999

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