Bietti crystalline dystrophy and choroidal neovascularization in childhood

Kobat, Sabiha Güngör; Gül, Fatih Cem; Yusufoğlu, Elif

doi:10.18240/ijo.2019.09.24

Cited by 10 publications

(6 citation statements)

References 12 publications

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“…Actually, the incidence of CNV may be higher than reported in the early stage of BCD, different from other non-syndromic RP [30] . Previously reported cases showed the lesions of CNV in BCD were usually observed in the foveal or parafoveal retina, except in one case of peripapillary CNV [34] . Though the molecular mechanism leading to CNV in BCD has not been elucidated, it does not seem like a direct consequence of the chronic irritation of Bruch's membrane by the intraretinal crystals, or the lesions will scatter throughout the whole posterior pole.…”

Section: Discussionmentioning

confidence: 80%

A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

Han¹,

Tang²,

Huang³

et al. 2022

Int J Ophthalmol

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AIM: To investigate the clinical characteristics and genetic features of a Bietti crystalline dystrophy (BCD) proband in a Chinese family. METHODS: A Chinese female diagnosed with BCD complicated by bilateral choroidal neovascularization (CNV) and her parents underwent complete ophthalmic examinations, including fundus autofluorescence (AF), fundus photography (FP), fundus fluorescein angiography (FFA), visual field testing, full-field electroretinography (ERG), optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The sequencing of the CYP4V2 gene was performed to the whole family. RESULTS: Bilateral tiny glittering crystal-like deposits and differing extent of atrophy of the retinal pigment epithelium (RPE) were found in the posterior pole of her fundus. The diffuse hypo-fluorescence shown on AF images and window defects shown on FFA both indicated the atrophy of the RPE and choriocapillaris. OCT showed the thinning of the RPE and choriocapillaris layer, ellipsoid zone (EZ) band defect and CNV in both eyes. OCTA images proofed bilateral type 2 CNV. The visual field test showed central and paracentral scotoma. ERG showed a slightly decreased b-wave in scotopic ERG. Gene sequencing identified three mutations of the CYP4V2 gene, c.802_807del, c.810delT, and c.1388G>A. The mutation c.1388G>A was a novel substitution mutation. CONCLUSION: The novel mutation c.1388G>A may be a possible cause that could induce the clinical phenotype of BCD.

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Section: Discussionmentioning

confidence: 80%

A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

Han¹,

Tang²,

Huang³

et al. 2022

Int J Ophthalmol

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“…1) ). Of those, only two cases with BCD were under 18 years of age [ 7 ], [ 13 ]. Atmaca et al [ 7 ] reported a 13-year-old girl with BCD who developed a unilateral peripapillary MNV 14 months after the initial diagnosis but no treatment was administered at that time.…”

Section: Discussionmentioning

confidence: 99%

“…Onset of the disease can occur from early teenage years to third decade of life. Some of the previously reported macular changes were cystoid macular edema [ 4 ], subfoveal serous retinal detachment [ 5 ], macular hole [ 6 ], and macular neovascular membrane (MNV) [ 7 ], [ 8 ], [ 9 ], [ 10 ], [ 11 ], [ 12 ], [ 13 ]. We hereby report the successful outcome with a single intravitreal ranibizumab injection in a 15-year-old boy who developed a unilateral MNV during the disease course who happened to be the third reported pediatric case with MNV in association with BCD and the first pediatric BCD patient receiving any vascular endothelial growth factor inhibitor (anti-VEGF) agent.…”

Section: Introductionmentioning

confidence: 99%

Unilateral macular neovascularization formation during the follow-up of a 15-year-old boy with Bietti crystalline dystrophy and the successful treatment outcome with a single intravitreal ranibizumab injection

Kayabaşı

Atas

Saatçi

2023

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Objective: To report the successful outcome with a single intravitreal ranibizumab injection in a 15-year-old boy with Bietti crystalline dystrophy (BCD) who developed a unilateral macular neovascularization (MNV) Methods: A retrospective case report Results: A 15-year-old Caucasian boy with Bietti crystalline dystrophy was diagnosed to have a unilateral MNV a year after the initial examination with the help of multimodal imaging and he was treated with a single intravitreal ranibizumab injection. Five months later, visual acuity improved and anatomically a dry-looking macula was noted. Conclusion: MNV is among the rare macular complications of BCD. The present case is the third reported pediatric case with MNV in association with BCD and the first pediatric BCD patient who received a vascular endothelial growth factor inhibitor (anti-VEGF) agent.

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“…The most common cause of CNV is age-related macular degeneration, which, if left untreated, leads to a significant decrease in visual acuity in patients over 55 years of age [23][24][25][26] . Other causes of CNV include pathological myopia [27][28][29] , polypoidal choroidal vasculopathy [30][31][32] , presumed ocular histoplasmosis syndrome 33 , angioid streaks [34][35] , uveitis 36 , choroidal rupture or trauma, central serous chorioretinopathy, macular dystrophy [37][38][39][40] and idiopathic CNV. Choroidal neovascularization for reasons other than AMD and pathological myopia is rare and usually occurs in working-age adults 41 .…”

Section: Discussionmentioning

confidence: 99%

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy

Nekolová¹,

Степанов²,

Kousal³

et al. 2022

BIOMED PAP

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Aims. We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In members of a family, we describe the development of diagnostic-therapeutic approaches and their impact on the prognosis of those whose vision was affected. Methods. The macular dystrophy of varying degrees of severity was diagnosed in 3 consecutive generations in different family members, both men and women. Modern therapeutic tools were used for the diagnostics. In one patient of the youngest generation, the development of secondary choroidal neovascularization (CNV) was identified and treated with an anti-VEGF (vascular endothelial growth factor) agent. DNA was isolated from venous blood and genome sequencing was performed in a proband. Results. We analysed the data of 13 members of one family of three consecutive generations. Six of them had macular dystrophy. The first were two of three siblings, a woman (73 years old) and a man (67). The offspring of the afflicted man, a female (36) and a male (80), had maculopathy. The first daughter of the woman (12) revealed findings of maculopathy but with normal electrical activity of the retina. The second girl (18), developed secondary CNV which responded well to intravitreal anti-VEGF treatment. Genetic analysis excluded mutations previously reported to be pathogenic for NCMD. Conclusion.If there is a maculopathy of unclear etiology in younger patients or in patients with unclear development or appearance, it is advisable to focus carefully on the family history and trace the occurrence of impaired vision in other family members.

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Bietti crystalline dystrophy and choroidal neovascularization in childhood

Cited by 10 publications

References 12 publications

A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

Unilateral macular neovascularization formation during the follow-up of a 15-year-old boy with Bietti crystalline dystrophy and the successful treatment outcome with a single intravitreal ranibizumab injection

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy

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