Vision-specific quality of life in a cohort of Alport Syndrome patients

Abstract

Purpose : Patients with Alport syndrome (AS) can display a range of ocular abnormalities with variable effects on visual function and quality of life. We report results from the National Eye Institute 25 item Visual Functioning Questionnaire (NEI-VFQ25) in a cohort of AS patients.

Methods : As part of a wider phenotyping study patients with AS undertook the NEI-VFQ25. This questionnaire is a widely used and validated shortened version of the NEI 51-item visual function questionnaire. It is multidimensional and yields a total score and several subscales. Here, the total score was analysed. Where possible, patients were also contacted some years after their initial visit, and the questionnaire was repeated to explore stability. Particular note was made of those patients who underwent lens exchange surgery for anterior lenticonus.

Results : 32 patients with AS were evaluated: 19 were males with X-linked AS; 8 were females with X-linked Alport variants; 5 had autosomal recessive AS. Mean (SD) age was 36 (16) years. Mean (SD) VFQ25 for the cohort was 84.9 (13.9). The lowest score was 35.4 in a patient with severe recurrent corneal erosions. Five patients had significant anterior lenticonus, and were listed for surgery; these patients had a mean (SD) score of 68.9 (11.9), which was significantly lower than the overall mean (p<0.05). Eighteen patients completed the VFQ25 questionnaire on a second occasion after a median (and mean) period of 6 years. For this cohort, there was no significant change in VFQ25 score. However, in a subgroup of 4 patients who underwent surgery for lenticonus and also completed the questionnaire on a second occasion, there was a significant increase in scores (p<0.05), with initial and final mean (SD) scores of 68.5 (13.7) and 94.1 (4.9) respectively.

Conclusions : We present average VFQ25 scores from a cohort of over 30 patients with Alport syndrome. For 18 patients who completed the questionnaire on a second occasion following a median interval of 6 years, scores were largely stable. The questionnaire appeared to be sufficiently sensitive to show an adverse effect of lenticonus on vision-related quality of life, and a noticeable improvement following surgery.

This is a 2021 ARVO Annual Meeting abstract.