Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

doi:10.1016/j.ophtha.2017.11.020

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Article

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Ophthalmology - 1 May 2018

Khan Kamron N, Kasilian Melissa, Mahroo Omar A R, Tanna Preena, Kalitzeos Angelos, Robson Anthony G, Tsunoda Kazushige, Iwata Takeshi, Moore Anthony T, Fujinami Kaoru, Michaelides Michel

Abstract excerpt

PURPOSE: To describe the earliest features of ABCA4-associated retinopathy. DESIGN: Case series. PARTICIPANTS: Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy. METHODS: The retinal phenotype was characterized by color fundus photography, OCT, fundus autofluorescence (FAF) imaging, electroretinography, and in 2 patients, adaptive optics scanning...

Topics

ATP-Binding Cassette Transporters
Adolescent
Atrophy
Child
Child, Preschool
Electroretinography
Female
Fluorescein Angiography
Humans
Macula Lutea
Macular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Ophthalmoscopy

Phenotype

Retina

Retrospective Studies

Stargardt Disease

Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 29310964
DOI: 10.1016/j.ophtha.2017.11.020
PMCID: PMC5917070

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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