Supplementary Material for: Stair-Case/Honeycomb Maculopathy in Alport Syndrome: A Case Report

Introduction: Alport syndrome is an inherited disease caused by mutations in COL4A5, COLA3, or COL4A4 resulting in kidney failure, hearing loss and ocular symptoms. We report a patient with Alport Syndrome who has a “stair-case/honeycomb” maculopathy, a rare but distinctive finding in this disease. Case Presentation: A 53-year-old man with Alport Syndrome was referred for gradual decrease in vision. His ocular history was remarkable for intraocular lens implantation secondary to lenticonus in each eye. Fundus photography showed rare white dots in the temporal midperiphery in each eye and fundus autofluorescence was normal. Optical Coherence Tomography (OCT) B-scans through the fovea showed irregular thinning of the inner retina with peaks and valleys in the macula of each eye. The ellipsoid zone was intact except for mild patchiness centrally. En face retinal structural OCT angiography (OCTA) images showed a mosaic-like honeycomb pattern in the macular region in both eyes, with hyporeflective depressions in areas of focal retinal atrophy. Retinal OCTA scans showed irregular foveal avascular zone (FAZ) areas with capillaries crossing the FAZ in the left eye, corresponding to islands of preserved retinal tissue. There was predominance of capillaries in the deeper retinal layers centrally. Conclusion: While severe irregular thinning of the macula is not a common feature in Alport syndrome, when it is present in patients who have not been previously diagnosed, particularly in patients with renal disease, it should suggest the diagnosis of Alport syndrome. Its occurrence can be the cause of vision loss which is not commonly associated with Alport central maculopathy.引言：奥尔波特综合征（Alport syndrome）是一种由COL4A5、COLA3或COL4A4基因突变引发的遗传性疾病，可导致肾功能衰竭、听力损失以及眼部症状。本文报道1例伴“阶梯状/蜂窝状”黄斑病变的奥尔波特综合征患者，该病变在该病中虽罕见但具有特征性。病例报告：1例53岁男性奥尔波特综合征患者因视力逐渐下降就诊。患者既往眼部病史提示双眼因圆锥晶状体行人工晶状体植入术。眼底摄影显示双眼颞侧中周部可见散在白色点状病灶，眼底自发荧光检查结果正常。黄斑中心凹光学相干断层扫描（Optical Coherence Tomography, OCT）B扫描显示双眼黄斑区视网膜内层不规则变薄，呈峰谷样改变；除中心区域轻度斑片状异常外，椭体带结构完整。视网膜结构光学相干断层血管成像（Optical Coherence Tomography Angiography, OCTA）的面扫描图像显示双眼黄斑区呈镶嵌样蜂窝状形态，局灶性视网膜萎缩区域可见低反射性凹陷。视网膜OCTA扫描显示左眼黄斑中心凹无血管区（foveal avascular zone, FAZ）形态不规则，毛细血管跨FAZ生长，对应视网膜组织保留的岛状区域；中心区域深层视网膜毛细血管分布占优势。结论：尽管严重的黄斑不规则变薄并非奥尔波特综合征的常见表现，但对于既往未确诊的患者，尤其是合并肾脏疾病的患者，若出现此类眼部表现，应提示奥尔波特综合征的诊断。该类病变可导致视力下降，而这一症状通常与奥尔波特综合征的中心性黄斑病变无关。