Current perspectives in Bietti crystalline dystrophy

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atro...

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Bibliographic Details
Published in:Clinical ophthalmology (Auckland, N.Z.) N.Z.), 2019-07, Vol.13, p.1379-1399
Main Authors: García-García, G P, Martínez-Rubio, M, Moya-Moya, M A, Pérez-Santonja, J J, Escribano, J
Format: Article
Language:English
Subjects:
Atrophy
Bietti crystalline dystrophy
corneal deposits
CYP4V2 gene
Cytochrome P-450
Epigenetic inheritance
Epithelium
Fatty acids
Fibroblasts
Genes
Genetic aspects
Metabolism
Mutation
Novels
Ophthalmology
Patients
Polyunsaturated fatty acids
retinal deposits
Review
Unsaturated fatty acids
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Summary:Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.
ISSN:1177-5467
1177-5483
1177-5483
DOI:10.2147/OPTH.S185744