Genetics of Bietti Crystalline Dystrophy

Ng, David C.; Lai, Timothy Y. Y.; Ng, Tsz Kin; Pang, Chi Pui

doi:10.1097/apo.0000000000000209

Cited by 41 publications

(34 citation statements)

References 71 publications

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“…Hu7 estimated a gene frequency of 0.005 by studying the first cousin parents of an epidemiologic survey in China in 1983. In accordance with the works of Hartong et al8, Okialda et al9 and Ng et al,10 the estimated a prevalence of BCD is 1 in 67,000 individuals, affecting 21,000 patients in China and about 5000 in USA. According to our estimations, the actual prevalence of BCD in Spain may be extremely low, affecting approximately 1 in 4,500,000 subjects, ie, 10–12 cases in the whole country, based on a survey carried out in 2013 in more than 650 medical centers of Spain 11.…”

Section: Epidemiology and Distributionsupporting

confidence: 78%

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<p>Current perspectives in Bietti crystalline dystrophy</p>

García-García

Rubio

Moya-Moya

et al. 2019

OPTH

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Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 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.

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Section: Epidemiology and Distributionsupporting

confidence: 78%

“…Peripheral responses may be preserved. P1 amplitudes and implicit times are markedly disturbed and N1 responses should be conserved 10,45,46…”

Section: Electrophysiological Findingsmentioning

confidence: 99%

<p>Current perspectives in Bietti crystalline dystrophy</p>

García-García

Rubio

Moya-Moya

et al. 2019

OPTH

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“…Genetic analysis led to identification of CYP4V2 that encodes cytochrome P450, family 4, subfamily V, polypeptide 2, as its causative gene 11, 12. The many genetic studies that have been done since the discovery of the gene confirm that BCD is an autosomal recessive disorder and that mutations in CYP4V2 account for disease status in virtually all affected individuals genetically analyzed 9, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 2324, 25.…”

Section: Introductionmentioning

confidence: 99%

CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations

Darki

Fekri

Farhangmehr

et al. 2019

Journal of Current Ophthalmology

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Purpose To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein. Methods The eleven exons of CYP4V2 were sequenced in the DNA of the proband of the Iranian BCD family. The putative disease-causing variation was screened in all affected and non-affected members. BCD causing CYP4V2 mutations previously reported in the literature were compiled, and positions of amino acids affected by nonsense and missense mutations were mapped onto the primary structure of the CYP4V2 protein. Results C.1219G > T in CYP4V2 that causes p.Glu407* was identified as cause of BCD in the Iranian family. The mutation segregated with disease status. Clinical presentations were similar among affected members, except that one patient presented with retinal macular hole. Twelve nonsense and 47 missense mutations in CYP4V2 were compiled. Inspection of distribution of amino acids affected by the mutations suggested non-random distribution and clustering of affected amino acids in nine regions of the protein, including regions that contain the heme binding site, the metal binding site, and a region between these binding sites. The most C-terminus proximal nonsense mutation affected position 482. Conclusions This study presents results of the genetic analysis of an Iranian BCD family. Protein regions affected by mutations within the nine mutation clusters include regions well conserved among orthologous proteins and human CYP4 proteins, some of which are associated with known functions. The findings may serve to identify reasonable candidate gene region targets for gene editing therapy approaches.

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“…Currently, over 60 different mutations in the CYP4V2 gene have been reported, mostly in Asian individuals, as reviewed by Ng et al (2016). The most common mutation in these patients is an insertion followed by a deletion at intron 6-exon 7 junction (rs207482233, c.802-8_810del17/insGC), which results in skipping of exon 7 (Ng et al 2016). Although all these variants are likely to result in a loss-of-function of the protein, the pathogenic mechanism that leads to the disease has not been determined.…”

Section: Introductionmentioning

confidence: 99%