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Article

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

Acta ophthalmologica - 1 Jun 2018

Nasser Fadi, Weisschuh Nicole, Maffei Pietro, Milan Gabriella, Heller Corina, Zrenner Eberhart, Kohl Susanne, Kuehlewein Laura

Abstract excerpt

PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual...

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Source

Identifiers

PMID: 29193673
DOI: 10.1111/aos.13612

Genes

ALMS1

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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