Carnevali Adriano, Sacconi Riccardo, Corbelli Eleonora, Querques Lea, Bandello Francesco, Querques Giuseppe
Ophthalmic Surg Lasers Imaging Retina. 2018 Apr 1;49(4):284-287. doi: 10.3928/23258160-20180329-14.
Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe "choroidal caverns," a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid. This supports the hypothesis that choroidal caverns could be a sign of the degenerative process involving the choroid in eyes with Best VMD. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:284-287.].
最佳型卵黄样黄斑营养不良（VMD）是一种常染色体显性遗传性营养不良，最常见的病因是BEST1基因突变。作者描述了“脉络膜空洞”，这是在最佳型VMD患者的脉络膜毛细血管和脉络膜中一种以前未报道过的光学相干断层扫描结果。对患有最佳型VDM的眼睛进行组织病理学检查发现，整个视网膜的视网膜色素上皮（RPE）中有广泛的脂褐素沉积，并且在RPE下方和脉络膜中有纤维状物质积聚。这支持了以下假设：脉络膜空洞可能是最佳型VMD患者眼睛中涉及脉络膜的退行性过程的一个迹象。[《眼科手术、激光与视网膜成像》。2018年；49:284 - 287。]
