Bietti crystalline dystrophy and choroidal neovascularisation

Gupta, Bhaskar; Parvizi, Sahar; Mohamed, Moin

doi:10.1007/s10792-010-9406-8

Cited by 23 publications

(16 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Bietti crystalline dystrophy can be associated with other sight-threatening complications, including cystoid macular edema, choroidal neovascularization, and macular hole. [13][14][15][16][17][18][19][20][21] Fluorescein and Indocyanine Green Angiography Findings Fluorescein angiography changes correlate well with clinical findings and progression in BCD. 12,22,23 In the early stage of BCD, hyperfluorescence due to window defects appears in areas of RPE atrophy with intact choriocapillaris.…”

Section: Fundus and Anterior Segment Features Of Bcdmentioning

confidence: 74%

“…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: 99%

See 1 more Smart Citation

Genetics of Bietti Crystalline Dystrophy

Ng¹,

Lai²,

Ng³

et al. 2016

Asia-Pacific Journal of Ophthalmology

View full text Add to dashboard Cite

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.

show abstract

Section: Fundus and Anterior Segment Features Of Bcdmentioning

confidence: 74%

Section: Role Of Cyp4v2 In Fatty Acid Metabolismmentioning

confidence: 99%

Genetics of Bietti Crystalline Dystrophy

Ng¹,

Lai²,

Ng³

et al. 2016

Asia-Pacific Journal of Ophthalmology

View full text Add to dashboard Cite

show abstract

“…6-11 While some reports have shown that CNV can regress without intervention, 5, 6 other studies have reported the success of anti-VEGF agents in CNV associated with BCD. 7, 9, 10 In our patient, in the presence of active CNV and metamorphopsia, anti-VEGF treatment was instituted, resulting in improved visual acuity and decreased visual distortion, supporting the role of the VEGF pathway in the pathophysiology of CNV in BCD and of a role of anti-VEGF therapy in the treatment of CNV in this condition.…”

Section: Discussionmentioning

confidence: 99%

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

Fuerst

Serrano

Han

et al. 2016

Ophthalmic Genetics

View full text Add to dashboard Cite

Purpose To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin ®; Genentech/Roche). Methods A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA). Results Best-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25). Conclusion Crystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.

show abstract

“…However, CNV infrequently occurs in patients affected by hereditary retinal dystrophies [21]. To date, there are only four reports of BCD associated with the phenotype of CNV [14], [22], [23], [24],whereas none of them identified causative mutations in CYP4V2 or other genes associated with CNV, such as tissue inhibitor of metalloproteinase 3 ( TIMP3 ) [14], [25]. In addition, the phenotype of BCD associated with a macular hole was only briefly described in two studies without genetic analysis [26], [27].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

View full text Add to dashboard Cite

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.

show abstract

Bietti crystalline dystrophy and choroidal neovascularisation

Cited by 23 publications

References 5 publications

Genetics of Bietti Crystalline Dystrophy

Genetics of Bietti Crystalline Dystrophy

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

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

Contact Info

Product

Resources

About