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Article

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Ophthalmology - 1 Jun 2014

Halford Stephanie, Liew Gerald, Mackay Donna S, Sergouniotis Panagiotis I, Holt Richard, Broadgate Suzanne, Volpi Emanuela V, Ocaka Louise, Robson Anthony G, Holder Graham E, Moore Anthony T, Michaelides Michel, Webster Andrew R

Abstract excerpt

OBJECTIVE: To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). DESIGN: Observational case series. PARTICIPANTS: Twenty patients from 17 families recruited from a multiethnic British population. METHODS: Patients underwent color fundus photography, near-infrared (NIR) imaging, fundus autofluorescence (FAF) imaging, spectral domain optical coherence tomography (SD-OCT),...

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PMID: 24480711
DOI: 10.1016/j.ophtha.2013.11.042

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RPE
ERG

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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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