A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.

doi:10.1016/j.ophtha.2024.01.035

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Article

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.

Ophthalmology - 1 Aug 2024

Fenner Beau J, Whitmore S Scott, DeLuca Adam P, Andorf Jean L, Daggett Heather T, Luse Meagan A, Haefeli Lorena M, Riley Janet B, Critser Douglas B, Wilkinson Mark E, Dumitrescu Alina V, Drack Arlene V, Boyce Timothy M, Russell Jonathan F, Binkley Elaine M, Sohn Elliott H, Russell Stephen R, Boldt H Culver, Mullins Robert F, Tucker Budd A, Scheetz Todd E, Han Ian C, Stone Edwin M

Abstract excerpt

PURPOSE: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution. DESIGN: Retrospective, single-institution cohort review. PARTICIPANTS: Patients seen at the University of Iowa between November 1986 and August 2022 clinically suspected to have disease caused by sequence variations in ABCA4. METHODS: DNA samples...

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Identifiers

PMID: 38309476
DOI: 10.1016/j.ophtha.2024.01.035
PMCID: PMC11398085

Genes

ABCA4

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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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