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Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 May 2026

Oku Kazuma, Mizobuchi Kei, Mochizuki Kiyofumi, Tsunoda Kazushige, Matsushita Itsuka, Nagata Tatsuo, Fujinami Kaoru, Suga Akiko, Yoshitake Kazutoshi, Sakaguchi Hirokazu, Hayashi Takaaki, Iwata Takeshi, Kondo Hiroyuki

Abstract excerpt

PURPOSE: To determine the clinical characteristics and the causative genetic variant of a familial case of pigmented paravenous retinochoroidal atrophy (PPRCA). METHODS: Whole exome sequencing (WES) was performed on ten individuals from four families. Their clinical characteristics were determined and compared to other patients with other inherited retinal dystrophies (IRDs) who had HK1 gene variants. RESULTS: A...

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Identifiers

PMID: 41543775
DOI: 10.1007/s00417-025-07107-x

Genes

HK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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