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Article

Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features.

Ophthalmic genetics - 1 Aug 2025

Fan Kenneth C, Wong Calvin W, Nichols Braden A, Sadat Roa, Becker Troy C, Brown David M, Wykoff Charles C

Abstract excerpt

INTRODUCTION: ABCA4 and PRPH2-related diseases are both phenotypically heterogeneous and clinically difficult to differentiate. There may be examination and imaging features that can aid in establishing a clinical diagnosis. METHODS: A single-center, retrospective, consecutive case series including patients with a molecular confirmation of pathologic variants in either the ABCA4 or PRPH2 were included. Chi-square...

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Source

Identifiers

PMID: 39586833
DOI: 10.1080/13816810.2024.2432064

Genes

ABCA4
PRPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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