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Article

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

Ophthalmology - 1 Mar 2004

Klevering B Jeroen, Maugeri Alessandra, Wagner Anja, Go Sioe Lie, Vink Carolien, Cremers Frans P M, Hoyng Carel B

Abstract excerpt

OBJECTIVE: To investigate the clinical spectrum and molecular causes of retinal dystrophies in 3 families. DESIGN: Family molecular genetics study. PARTICIPANTS: Sixteen patients and 15 relatives in 3 families. METHODS: Members of 3 families with multiple ABCA4-associated retinal disorders were clinically evaluated. Deoxyribonucleic acid samples of all affected individuals and their family members were analyzed...

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Source

Identifiers

PMID: 15019334
DOI: 10.1016/j.ophtha.2003.06.010

Genes

ABCA4

Provenance

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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