常染色体隐性遗传Best病的临床特征及治疗研究进展

常染色体隐性遗传Best病(ARB)是BEST1突变相关的一类临床罕见眼底病。眼底典型特征为视盘周围、视网膜血管弓附近多灶性、斑点状视网膜下黄白色沉积物,对应FAF斑点状强荧光,少见黄斑区卵黄样病损。OCT常有视网膜下和(或)层间积液或黄斑囊样水肿,以及位于RPE水平的强反射沉积物。EOG光峰/暗谷比值严重下降,常伴全视野ERG视锥和(或)视杆细胞振幅下降。此外,患者通常伴有远视、眼轴较短或前房较浅,易发生闭角型青光眼。ARB暂无有效治疗手段,临床上可针对其青光眼、脉络膜新生血管等并发症治疗。目前关于ARB多为小样本回顾性病例研究,临床上易与Best卵黄样黄斑营养不良、中心性浆液性脉络膜视网膜病变等眼底疾病误诊,详尽了解ARB的临床特征及基因遗传特点,将有助于精确临床诊疗评估。未来需更大样本量研究深入对ARB疾病发展不同时期、其相关病理机制、基因型与表型关系的探讨,从而提升对疾病的认识。

Clinical features and research progress in autosomal recessive Best disease

Autosomal recessive Best disease(ARB)is a rare clinical fundus disease caused by BEST1 mutation.The critical features of ARB are the presence of multifocal subretinal yellowish lesions,which corresponding to the hyperfluorescent spots on FAF,scattered over the posterior pole of the retina,absent of typical vitelliform lesions in the macula.Imaging of OCT is often manifested as subretinal or intraretinal fluid,and cystoid macular edema,and hypereflective focus at RPE level.EOG shows an absent or severely reduced light rise(decreased value of Arden),which often accompanied by reduction and delay of the rod and cone ERG.Some patients with ARB show hyperopia,short axial length and shallow anterior chambers,with a corresponding high incidence of angle-closure glaucoma.Though there isn't any effective therapeutic methods of ARB at present,prevention and treatment for its complications such as angle-closure glaucoma and choroidal neovascularization should be considered.Present study about ARB mainly focus on some retrospective cases,and ARB is often misdiagnosed with Best vitelliform macular dystrophy,central serous chorioretinopathy and other fundus diseases in clinic.A detailed understanding of the clinical features and genetic characteristics of ARB might be helpful in clinical diagnosis and treatment.Research with larger sample size are expected to further investigate the different stages of ARB and its developing process,the potential pathological mechanism,the relationship between genotype and phenotype,so as to improve the understanding of the disease.