Optical Coherence Tomographic Findings in Bietti’s Crystalline Tapetoretinal Dystrophy

The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family. Data suggest a dose-dependent phenotype ranging from subclinical corneal changes in subjects carrying 1 mutant Ile111Thr CYP4V2 allele to the complete manifestation of the disease in homozygous subjects. In vivo corneal confocal microscopy is a useful technique in the diagnosis of this disorder.

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Genotype–Phenotype Analysis of Bietti Crystalline Dystrophy in a Family with the CYP4V2 Ile111Thr Mutation

García-García

López-Garrido²,

Rubio³

et al. 2013

Cornea

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Optical Coherence Tomographic Findings in Bietti’s Crystalline Tapetoretinal Dystrophy

Abstract: In cases of Bietti crystalline tapetoretinal dystrophy, OCT shows changes secondary to fundus atrophy and more specific changes that can be related to the presence of crystals, thereby making OCT particularly useful for demonstrating macular atrophic abnormalities.

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Genotype–Phenotype Analysis of Bietti Crystalline Dystrophy in a Family with the CYP4V2 Ile111Thr Mutation

Genotype–Phenotype Analysis of Bietti Crystalline Dystrophy in a Family with the CYP4V2 Ile111Thr Mutation

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