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A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

Clinical genetics - 1 Apr 2022

Liu Yi-Dan, Huang Shu-Shu, Li Mei, Lek Monkol, Song Dan-Yu, Tan Dan-Dan, Chen Xiao-Yu, Zhang Hong, Liu Jie-Yu, Chang Xing-Zhi, Xiong Hui

Abstract excerpt

Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported. In the present study, we describe the clinical and genetic findings in a Chinese patient with retinitis pigmentosa (RP),...

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PMID: 34988992
DOI: 10.1111/cge.14108

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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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