UNASSIGNED: An observational, prospective, case series on two siblings affected by ARB is presented. Patients underwent genetic testing and optical coherence tomography (OCT), blue-light fundus autofluorescence (BL-FAF), near-infrared fundus autofluorescence (NIR-FAF), fluorescein angiography (FA), MultiColor imaging, and OCT angiography (OCTA).
UNASSIGNED: Two male siblings, aged 22 and 16, affected by ARB resulting from c.598C>T, p.(Arg200*) and c.728C>A, p.(Ala243Glu) BEST1 compound heterozygous variants, presented with bilateral multifocal yellowish pigment deposits scattered through the posterior pole that corresponded to hyperautofluorescent deposits on BL-FAF. Vice versa, NIR-FAF mainly disclosed wide hypoautofluorescent areas in the macula. A cystoid maculopathy and shallow subretinal fluid were evident on structural OCT, albeit without evidence of dye leakage or pooling on FA. OCTA demonstrated disruption of the choriocapillaris throughout the posterior pole and sparing of intraretinal capillary plexuses. Six months of combined therapy with oral acetazolamide and topical brinzolamide resulted in limited clinical benefit.
UNASSIGNED: We reported two siblings affected by ARB, presenting as non-vasogenic cystoid maculopathy. Prominent alteration of NIR-FAF signal and concomitant choriocapillaris rarefaction on OCTA were noted in the macula. The limited short-term response to combined systemic and topical CAIs might be explained by the impairment of the RPE-CC complex.
■观测,prospective,介绍了受ARB影响的两个兄弟姐妹的案例系列。患者接受了基因检测和光学相干断层扫描(OCT),蓝光眼底自发荧光(BL-FAF),近红外眼底自发荧光(NIR-FAF),荧光素血管造影(FA),多色成像,和OCT血管造影(OCTA)。
■两个男性兄弟姐妹,22岁和16岁,受c.598C>T导致的ARB影响,p.(Arg200*)和c.728C>A,p.(Ala243Glu)BEST1复合杂合变体,呈现双侧多焦点淡黄色色素沉积物,散布在后极上,与BL-FAF上的高自发荧光沉积物相对应。反之亦然,NIR-FAF主要揭示黄斑中广泛的低自发荧光区域。在结构OCT上可见囊样黄斑病变和浅层视网膜下液,尽管没有证据表明染料泄漏或积聚在FA上。OCTA显示整个后极的脉络膜毛细血管破裂,并保留了视网膜内毛细血管丛。口服乙酰唑胺和局部布林佐胺联合治疗六个月的临床获益有限。
■我们报告了两个兄弟姐妹受到ARB的影响,表现为非血管源性囊样黄斑病变。在黄斑中注意到OCTA上NIR-FAF信号的显着改变和伴随的脉络膜毛细血管稀疏。对全身和局部CAI联合的短期反应有限可能是通过RPE-CC复合物的损害来解释的。