常染色体隐性遗传Best病1例  

A case report of autosomal recessive bestrophinopathy

作　　者：龚轶 刘勃实 邢东军 黄嘉威 李筱荣 GONG Yi;LIU Boshi;XING Dongjun;HUANG Jiawei;LI Xiaorong(Tianjin Key Laboratory of Retinal Functions and Diseases,Tianjin Branch of National Clinical Research Center for Ocular Disease,Eye Institute and School of Optometry,Tianjin Medical University Eye Hospital,Tianjin 300392,China)

机构地区：[1]天津医科大学眼科医院、眼视光学院、眼科研究所、国家眼耳鼻喉疾病临床医学研究中心天津市分中心、天津市视网膜功能与疾病重点实验室,天津300392

出　　处：《中国眼耳鼻喉科杂志》2024年第S01期1-4,共4页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：天津市医学重点学科(专科)建设项目(TJYXZDXK-037A)。

摘　　要：患儿13岁,因“双眼视力下降1周余,左眼重”就诊。患者曾于外院诊断为“双眼脉络膜视网膜炎?”,予口服糖皮质激素治疗,未遵医嘱。初诊查体:右眼最佳矫正视力0.8,左眼最佳矫正视力0.03,双眼眼前节未见明显异常,双眼玻璃体清,未见炎性细胞。眼底可见双眼后极部黄白色环形病灶及颞下方类圆形病灶。光学相干层析成像(OCT)及光学相干血管成像(OCTA)检查提示:双眼黄斑囊样水肿,黄斑中心凹下可见大量视网膜下液,左眼黄斑中心凹上方视网膜色素上皮层(RPE)局灶隆起,可见部分血流信号。初步诊断为“双眼非血管源性黄斑水肿,左眼脉络膜新生血管(CNV)”。为查找病因行全身检查,未发现弓形虫病、感染、自身免疫系统等指标异常。为治疗左眼CNV,给予患者左眼玻璃体腔注射雷珠单抗及左眼黄斑区微脉冲激光治疗,但无明显疗效。由于患者的广角像显示视网膜后极部多灶性、斑点状黄白色沉积物;自发荧光(FAF)表现为斑片状强荧光和弱荧光区;OCT可见囊样水肿、视网膜下液,脱离的神经上皮层下方观察到光感受器外节被拉长(钟乳石样改变),以上特征符合常染色体隐性遗传的Best病(ARB),后行基因检查确诊为该病。目前ARB尚无明确疗法,以对症治疗为主。给予该患者布林佐胺滴眼液和口服碳酸酐酶抑制剂治疗,可见囊样水肿部分吸收。讨论体会:ARB目前主要以国外研究报道为主,对于该类患者,应仔细询问病史,结合影像学特征和基因检测对于诊疗十分重要。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 hypoautofluorescence.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.

关 键 词：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 

分 类 号：R774.1[医药卫生—眼科]