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

García-García, Gerardo-Pedro; López-Garrido, María-Pilar; Rubio, M.P. Talavera; Moya-Moya, Medina-Azahara; Belmonte-Martínez, J.; Escribano, Julio

doi:10.1097/ico.0b013e31828a27bc

Cited by 18 publications

(14 citation statements)

References 24 publications

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“…In the present study, we found multiple microcystic changes in multiple retinal layers in BCD patients through SD-OCT, a finding consistent with a previous study [7]. However, we suppose that the microcystic changes are attributed to tissue loss presumably secondary to disruption of the retinal architecture by the crystals, rather than subtle macular edema suggested by Garcia-Garcia et al [7].…”

Section: Discussionsupporting

confidence: 93%

“…However, we suppose that the microcystic changes are attributed to tissue loss presumably secondary to disruption of the retinal architecture by the crystals, rather than subtle macular edema suggested by Garcia-Garcia et al [7]. Compared to a prevalence from 71% to 100% in the previous study, our SD-OCT study demonstrated ORT only in 3 of the 22 eyes (13.6%) [33], [34], [35].…”

Section: Discussioncontrasting

confidence: 51%

“…Although corneal crystalline dystrophy in this disorder is characterized by the presence of glistening limbic deposits visible in 360 degrees and mainly presents in Caucasians [4], [5], [6], central and paracentral corneal distribution of the crystalline deposits without limbic involvement has also been reported recently [7], suggesting significant phenotypic variations of this disorder. BCD is a progressive disease characterized by nyctalopia, decreased visual acuity, and paracentral scotoma between the second and fourth decades of life, progressing to marked visual impairment, visual field constriction, and legal blindness by the fifth or sixth decades of life [7], [8].…”

Section: Introductionmentioning

confidence: 97%

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Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

et al. 2014

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PurposeTo investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).MethodsSeventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2.ResultsAll 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV.ConclusionThe novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype–phenotype associations in Chinese patients with BCD.

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Section: Discussionsupporting

confidence: 93%

Section: Discussioncontrasting

confidence: 51%

Section: Introductionmentioning

confidence: 97%

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Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

et al. 2014

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“…49,55 Interestingly, clinical symptoms of BCD remain only in the eyes. The link between altered 32 Yin et al, 36 Meng et al, 59 Manzouri et al, 64 Shan et al 60 15 3 c.332T>C p.I111T Missense Li et al, 55 Astuti et al, 63 Rossi et al, 61 García-García et al, 65 Haddad et al, 66 Rossi et al 67 10 Lin et al, 11 Li et al, 17 Gocho et al, 27 Halford et al, 32 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Astuti et al, 63 Nakamura et al, 68 Lee et al, 69 Chung et al, 70 Gekka et al, 71 Jin et al, 72 Liu et al, 73 Shan et al, 60 Tian et al, 62 Wada et al, 74 10 Li et al, 17 Li et al, 55 Xiao et al, 57 Meng et al, 59 36 Meng et al, 59 Mamatha et al 77 43 9 c.1091-2A>G Exon9del Splice site Li et al, 17 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Shan et a...…”

Section: Role Of Cyp4v2 In Fatty Acid Metabolismmentioning

confidence: 98%

Genetics of Bietti Crystalline Dystrophy

Ng¹,

Lai²,

Ng³

et al. 2016

Asia-Pacific Journal of Ophthalmology

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Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. CYP4V2 has been identified as the causative gene for BCD. The CYP4V2 gene belongs to the cytochrome P450 superfamily and encodes for fatty acid ω-hydroxylase of both saturated and unsaturated fatty acids. The CYP4V2 protein is localized most abundantly within the endoplasmic reticulum in the RPE and is postulated to play a role in the physiological lipid recycling system between the RPE and photoreceptors to maintain visual function. Electroretinographic assessments have revealed progressive dysfunction of rod and cone photoreceptors in patients with BCD. Several genotypes have been associated with more severe phenotypes based on clinical and electrophysiological findings. With the advent of multimodal imaging with spectral domain optical coherence tomography, fundus autofluorescence, and adaptive optics scanning laser ophthalmoscopy, more precise delineation of BCD severity and progression is now possible, allowing for the potential future development of targets for gene therapy.

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“…[14] Marked visual impairment, visual field constriction, and legal blindness by the fifth or sixth decades of life are the usual final outcomes. [56] Choroidal neovascularization,[7] Cystoid macular edema,[8] and macular hole[910] have been reported in BCD patients but no causative mutations in CYP4V2 or other genes were found associated with these complications. Trauma, progressive high myopia, and vitreomacular traction are some known causes of macular hole but we did not find any of these predisposing factors in this patient.…”

Section: Discussionmentioning

confidence: 99%

Outcome of macular hole surgery in Bietti crystalline dystrophy

Nourinia

Dehghan

Fekri

2017

J Ophthalmic Vis Res

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Purpose:To describe a 42-year-old man, a known case of Bietti crystalline dystrophy who underwent surgery for unilateral full thickness macular hole.Case Report:Clinical features, color fundus photographs, and optical coherence tomography, electroretinography, and electrooculography findings of the patient are reported. His visual acuity improved from counting fingers to 20/50 after pars plana deep vitrectomy with internal limiting membrane (ILM) peeling and gas injection.Conclusion:Macular hole can occur in Bietti crystalline dystrophy and the post-surgical outcome is good.

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

Cited by 18 publications

References 24 publications

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

Genetics of Bietti Crystalline Dystrophy

Outcome of macular hole surgery in Bietti crystalline dystrophy

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