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Article

Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.

Documenta ophthalmologica. Advances in ophthalmology - 1 Dec 2025

Higa Natsuki, Hayashi Takaaki, Mizobuchi Kei, Yoshikawa Mari, Hanaya Junko, Nakano Tadashi

Abstract excerpt

PURPOSE: To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction. METHODS: A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs and MfERGs), and genetic testing with an HS gene panel. RESULTS: Her best-corrected...

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Source

Identifiers

PMID: 40632418
DOI: 10.1007/s10633-025-10039-w

Genes

SPTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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