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Article

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

BMC ophthalmology - 7 Dec 2019

Shurygina Maria F, Parker Maria A, Schlechter Catie L, Chen Rui, Li Yumei, Weleber Richard G, Yang Paul, Pennesi Mark E

Abstract excerpt

BACKGROUND: Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1. CASE PRESENTATION: Two siblings originally diagnosed as having achromatopsia presented with mild light...

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Identifiers

PMID: 31810438
DOI: 10.1186/s12886-019-1259-y
PMCID: PMC6898930

Genes

ALMS1

Variants

Provenance

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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