Purpose: 

To characterize the spectrum of internal limiting membrane (ILM) disease in Alport syndrome using multimodal imaging, including widefield (WF) and ultra-widefield (UWF) modalities, and to report their relative prevalence according to the genetic pattern of inheritance.

Methods: 

Cross-sectional clinical study of patients diagnosed with Alport syndrome. All patients underwent UWF color photography and autofluorescence, WF-optical coherence tomography angiography and spectral-domain optical coherence tomography. Demographics, past medical and ophthalmic history, and genetic mutation history were collected.

Results: 

Forty-two eyes of 21 patients (11 men; age 36.6 ± 12.9 years) were included. Macular spectral-domain optical coherence tomography revealed ILM granularity, more frequent in X-linked Alport syndrome and corresponding to dot maculopathy on color fundus. Mid-peripheral spectral-domain optical coherence tomography scans revealed multilamellated ILM in eight eyes (19%), presumably progressive, which corresponded to a cavitary pattern on en-face OCT. En-face OCT revealed multiple areas of retinal nerve fiber layer dehiscence in the macula, overlapping with vascular lacunae on optical coherence tomography angiography, and a coarse arrangement of retinal nerve fiber layer above and below the temporal raphe in 20 eyes (52%).

Conclusion: 

Multimodal imaging allowed for the detection/characterization of retinal findings (ILM granularity, progressive ILM lamellation, retinal nerve fiber layer dehiscence, vascular lacunae, and coarse arrangement of retinal nerve fiber layer toward the disc) as multifaceted manifestations of ILM disease in Alport syndrome.

中文翻译：

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ALPORT 综合征的内限膜疾病谱：一项多模态成像研究

目的： 

使用多模态成像（包括宽场（WF）和超宽场（UWF）模式）表征 Alport 综合征的内界膜（ILM）疾病谱，并根据遗传的遗传模式报告它们的相对患病率。

方法： 

诊断为 Alport 综合征的患者的横断面临床研究。所有患者均接受UWF彩色摄影和自发荧光、WF-光学相干断层扫描血管造影和光谱域光学相干断层扫描。收集了人口统计资料、过去的医疗和眼科病史以及基因突变史。

结果： 

包括 21 名患者（11 名男性；年龄 36.6 ± 12.9 岁）的 42 只眼。黄斑光谱域光学相干断层扫描显示 ILM 粒度，在 X 连锁 Alport 综合征中更常见，并且对应于彩色眼底上的点状黄斑病变。中外周光谱域光学相干断层扫描显示 8 只眼睛 (19%) 有多层 ILM，可能是渐进的，这对应于正面 OCT 上的空洞图案。正面OCT显示黄斑多处视网膜神经纤维层裂开，光学相干断层扫描血管造影显示与血管腔重叠，20眼（52%）颞缝上方和下方视网膜神经纤维层排列粗糙。

结论： 

多模态成像允许检测/表征视网膜发现（ILM 粒度、进行性 ILM 分层、视网膜神经纤维层裂开、血管腔隙和视网膜神经纤维层向椎间盘的粗排列）作为 Alport 综合征中 ILM 疾病的多方面表现。