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Article

The current status of molecular diagnosis of inherited retinal dystrophies.

Current opinion in ophthalmology - 1 Jul 2015

Chiang John Pei-wen, Trzupek Karmen

Abstract excerpt

PURPOSE OF REVIEW: We are witnessing lightning-fast advances in the molecular diagnosis of inherited retinal dystrophies, mainly due to the widespread use of next-generation sequencing technologies. The purpose of this review is to highlight the breadth of findings from this in-depth testing approach, and to propose changes to our traditional testing and diagnostic paradigms. Lessons learned from modern molecular...

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Identifiers

PMID: 26214332
DOI: 10.1097/ICU.0000000000000185

Genes

ABCA4

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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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