Macular hole formation in Bietti's crystalline retinopathy: A case report

Ao, Saatçi; Yaman, Aylın; Berk, Ayşe Tülin; Mf, Söylev

doi:10.3109/13816819709057127

Cited by 20 publications

(14 citation statements)

References 7 publications

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“…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%

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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Section: Fundus and Anterior Segment Features Of Bcdmentioning

confidence: 74%

Genetics of Bietti Crystalline Dystrophy

Ng¹,

Lai²,

Ng³

et al. 2016

Asia-Pacific Journal of Ophthalmology

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“…The former may at least partly be due to differences in age at time of examination. Although macular hole formation has also been previously reported in a few BCD patients, strong evidence in favor of implicating CYP4V2 for this condition is lacking 27, 28…”

Section: Discussionmentioning

confidence: 98%

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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“…Though the clinical features of BCD are well known SD-OCT reveals additional morphologic findings. Some of the previously reported macular changes are subretinal neovascularization [ 12 – 15 ], macular hole [ 16 ], cystoid macular edema [ 10 , 17 ], and subfoveal sensorial retinal detachment [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Spectral Domain Optical Coherence Tomographic Findings of Bietti Crystalline Dystrophy

Saatçi

Doruk

Yaman

et al. 2014

Journal of Ophthalmology

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We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD) with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease). Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease). Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%). SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.

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Macular hole formation in Bietti's crystalline retinopathy: A case report

Cited by 20 publications

References 7 publications

Genetics of Bietti Crystalline Dystrophy

Genetics of Bietti Crystalline Dystrophy

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

Spectral Domain Optical Coherence Tomographic Findings of Bietti Crystalline Dystrophy

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