Rustam Zainab, Aman Sarah, Singh Nakul, Tan Rose, Kashani Amir H, Campochiaro Peter A
The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Case Rep Ophthalmol. 2025 Jun 24;16(1):496-502. doi: 10.1159/000546567. eCollection 2025 Jan-Dec.
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.
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 mid-periphery 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.
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.
奥尔波特综合征是一种由COL4A5、COL4A3或COL4A4基因突变引起的遗传性疾病，可导致肾衰竭、听力丧失和眼部症状。我们报告了一名患有奥尔波特综合征的患者，其患有“阶梯状/蜂窝状”黄斑病变，这在该疾病中是一种罕见但独特的表现。
一名53岁的奥尔波特综合征男性因视力逐渐下降前来就诊。他的眼部病史以双眼圆锥形晶状体继发人工晶状体植入术为显著特征。眼底摄影显示双眼颞侧中周边罕见的白色小点，眼底自发荧光正常。通过中央凹的光学相干断层扫描（OCT）B扫描显示双眼黄斑区视网膜内层不规则变薄，有峰谷起伏。除中央轻度斑驳外，椭圆体带完整。视网膜结构OCT血管造影（OCTA）正面图像显示双眼黄斑区呈马赛克样蜂窝状图案，局部视网膜萎缩区域有低反射凹陷。视网膜OCTA扫描显示左眼中央凹无血管区（FAZ）不规则，有毛细血管穿过FAZ，对应于保留的视网膜组织岛。中央视网膜深层毛细血管占优势。
虽然黄斑严重不规则变薄在奥尔波特综合征中并非常见特征，但在先前未确诊的患者中出现时，尤其是患有肾脏疾病的患者，应提示奥尔波特综合征的诊断。其出现可能是视力丧失的原因，而这通常与奥尔波特中央黄斑病变无关。
