You Position: Home > Paper

A case report of autosomal recessive bestrophinopathy

( views:26, downloads:9 )
Author:
No author available
Journal Title:
Chinese Journal of Ophthalmology and otorhinolaryngology
Issue:
z1
DOI:
10.14166/j.issn.1671-2420.2024.s1.001
Key Word:
Best病;常染色体隐性遗传Best病;中心性浆液性脉络膜视网膜病变;抗血管内皮生长因子治疗;碳酸酐酶抑制剂;Best disease;Autosomal recessive bestrophinopathy;Cental serous choroiretinopathy;Anti-vascular endothelial growth factor;Carbonic anhydrase inhibitor

Abstract: A 13-year-old child presented with bilateral blurred vision for 1 week,and worse in the left eye.The patient had previously been diagnosed with"bilateral chorioretinitis"in local hospital and denied corticosteroids treatment.Initial examination showed that the best corrected visual acuity(BCVA)was 0.8 in the right eye and 0.03 in the left.The anterior segments were normal and no inflammatory cells was observed in the vitreous of either eye.The fundus showed ring-like yellowish lesions in the posterior pole and inferior temporal area of both eyes.Optical coherence tomography(OCT)and Angio Optical coherence tomography(OCTA)showed cystoid macular edema and subretinal fluid in both eyes and a retinal pigment epithelial(RPE)elevation lesion in the superior macula with blood flow signal in the left eye.The patient was preliminarily diagnosed with"bilateral non-vasogenic macular edema and choroidal neovascularization in the left eye".Systemic examinations were performed and toxoplasmosis,infection,autoimmune disorders were all excluded.The left eye was then treated with intravitreal ranibizumab injection combined with micro-pulse laser therapy.However,there was no significant improvement.Ultra-wide field photo reveled multiple yellowish flecks and dots in the posterior pole.Fundus autofluorescence(FAF)demonstrated mottling hyper-autofluorescence and hypo-autofluorescence.OCT showed cystoid macular edema,subretinal fluid and elongation of the photoreceptor outer segments(stalactite-like lesions).Considering the results of the ophthalmic examination and the genetic testing,the patient was diagnosed with ARB.There is no effective therapy for ARB,and symptomatic treatment is the main therapeutic choice.The patient received brinzolamide eye drops and oral carbonic anhydrase inhibitor,and cystoid edema was partial absorbed.At present,ARB was mainly reported by foreign studies.The detailed medical history,imaging features and genetic detection were helpful for diagnosis and treatment.

WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn
Baidu
map