Ocular Manifestations in Alport Syndrome: A Study in a Portuguese Tertiary Center
DOI:
https://doi.org/10.48560/rspo.28276Keywords:
Nephritis, Hereditary, Retinal Diseases, Tomography, Optical CoherenceAbstract
INTRODUCTION: Alport syndrome (AS) is an inherited disease caused by genetic variants of the COL4A3/4/5 genes. Inheritance patterns include X-Linked (XLAS), autosomal dominant (ADAS) or recessive (ARAS) and digenic. The integrity of the collagen IV α3α4α5 structure is crucial to maintain the network of the kidney, cochlea and the eye basement membranes. Ocular findings can occur in AS: recurrent corneal erosions, lenticonus, dot-and-fleck retinopathy and temporal retinal thinning. While not typically vision threatening, their detection might aid its diagnosis. This report describes the ocular findings of patients with AS in Centro Hospitalar de Vila Nova de Gaia/Espinho.METHODS: Observational cohort of 38 patients with genetically confirmed AS. Patients were referred from the Nephrology department and underwent complete ophthalmologic evaluation with retinography, retinal spectral-domain optical coherence tomography (SD-OCT) and specular microscopy (SM). Descriptive statistics were performed to summarize the clinical findings on ophthalmologic evaluation, color fundus photography, SM and SD-OCT; retinal layers thickness and the nasal/temporal thickness ratio (TTI – temporal thinning index) were determined and compared with a 1:1 matched control group.
RESULTS: Mean age of Alport patients was 49 years; 53% of patients were female and 81% had mutations in the COL4A3 gene, mainly as ADAS. No corneal changes or lenticonus were detected. Four patients with ADAS presented with dot-and-fleck retinopathy and one with digenic inheritance had focal temporal retinal thinning. No specific pattern of retina thickness reduction was identified in the macular SD-OCT analysis of Alport patients and the TTI was similar to the control group. Mean cell count was 2717 cels/mm2, with a mean area of 374 µm2; mean coefficient of variation and percentage of hexagonal cells was 32% and 58%, respectively, with a mean central corneal thickness of 538 µm.
CONCLUSION: Disease-related ocular findings are scarcely reported in ADAS, who have a genetic variant in one alelle of the COL4A3/4 genes. In our report 4 patients with ADAS presented with dot-and-fleck retinopathy. This defies the commonly accepted rule that ocular findings are non-existing in ADAS, and a thorough ophthalmologic evaluation of all Alport patients can provide useful diagnostic information.
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