Retinal Findings in Alport Syndrome using Widefield and Ultra-widefield Imaging

Abstract

Purpose : Most reports on Alport syndrome (AS) have focused on the posterior pole, while the retinal periphery has remainedlargely unexplored. Newer diagnostic modalities utilizing optical coherence tomography angiography (OCTA) andfundus photography have allowed for widefield (WF) and ultra-widefield (UWF) imaging of the retina. We performed a cross-sectional clinical study correlating the retinal findings on WF and UWF imaging with the clinical characteristics of our cohort of AS patients.

Methods : Demographics, past medical and ophthalmic history were collected at the inclusion visit. All patients underwent UWF color fundus photography and fundus autofluorescence (FAF), WF OCTA, and spectral-domain OCT (SD-OCT). Clinical associations were quantitatively explored with Pearson’s correlation tests and chi-squared tests for quantitative and qualitative variables, respectively.

Results : Forty-two eyes of 21 patients (11 males, 55%; mean age 36.6±12.9 years) with AS were included. Female carriers were older at time of inclusion (mean age 46±15 years). Dot maculopathy was more frequent in male patients with X-linked AS; macular dots corresponded to inner limiting membrane (ILM) granularity on SD-OCT. Thirteen eyes (34%) had a consistent pattern of peripheral hypoautofluorescent ring on UWF-FAF. En-face OCT revealed multiple areas of retinal nerve fiber layer (RNFL) dehiscence in the macula, overlapping with temporal vascular lacunae seen on OCTA. Twenty eyes (52%) had absent RNFL raphe temporally. Mid-peripheral SD-OCT scans revealed a splintered and/or multi-lamellated ILM in 8 eyes (19%), which was likely progressive.

Conclusions : WF and UWF imaging allowed for the detection of new findings in AS patients. Most of the features are presumably congenital but some may be progressive and may share similar features to the renal pathology identified in this rare disorder.

This is a 2021 ARVO Annual Meeting abstract.

 

Figure 1. Structural and en-face optical coherence tomography (OCT) of internal limiting membrane lamellation in the macula.

 

Figure 2. Structural and en-face optical coherence tomography (OCT) of internal limiting membrane (ILM) lamellation and retinoschisis in the mid-periphery.