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Article

Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.

Ophthalmology - 1 Aug 2001

Driessen C A, Janssen B P, Winkens H J, Kuhlmann L D, Van Vugt A H, Pinckers A J, Deutman A F, Janssen J J

Abstract excerpt

PURPOSE: Recent studies show that mutations in the gene encoding 11-cis retinol dehydrogenase are associated with fundus albipunctatus. The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases. DESIGN: Case-control molecular genetics study. PARTICIPANTS AND CONTROLS: Two index...

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Identifiers

PMID: 11470705
DOI: 10.1016/s0161-6420(01)00640-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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