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Article

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

Investigative ophthalmology & visual science - 1 Nov 2016

Fakin Ana, Robson Anthony G, Chiang John Pei-Wen, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Holder Graham E, Webster Andrew R

Abstract excerpt

PURPOSE: To determine the effect of 15 individual ABCA4 mutations on disease severity. METHODS: Eighty-two patients harboring 15 distinct ABCA4 mutations in trans with null (hemizygous), 10 homozygous, and 20 nullizygous patients were recruited. Age of onset was determined from medical histories. Electroretinography (ERG) responses were classified into three groups (normal; cone dysfunction; cone and rod...

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Source

Identifiers

PMID: 27820952
DOI: 10.1167/iovs.16-20446

Genes

ABCA4
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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