Abstract
Aims/Purpose: Alport syndrome can have ocular features, including anterior lenticonus, which affects vision and quality of life. We explored visual acuities and vision‐related quality of life, as quantified using the National Eye Institute 25 item Visual Functioning Questionnaire (VFQ‐25), in a cohort of patients before and after lens exchange surgery.Methods: Patients with genetically confirmed Alport syndrome were recruited for an ocular phenotyping study, and completed the NEI‐VFQ25 (a validated visual function questionnaire, yielding a total score out of 100). Patients with lenticonus were offered lens exchange surgery. Best recorded visual acuities before and after surgery were collated, and converted to logMAR for analysis. Changes in quality of life were ascertained by comparing scores obtained before, and some time after, surgery.Results: Five patients (10 eyes) underwent lens exchange surgery for lenticonus. All were male; mean (SD) age at first eye surgery was 43 (8.5) years. For right eyes, mean (SD) pre‐ and post‐operative logMAR visual acuities were 0.31 (0.28) and 0.05 (0.10), respectively. For left eyes, these were 0.23 (0.11) and 0.02 (0.10), respectively. Median pre‐op acuities were 0.30 and 0.18 for right and left eyes, respectively; median post‐operative acuities were 0.03 and 0.00, respectively. Median improvements were 0.2 and 0.18 for right and left eyes, respectively. Taking all eyes together, the improvement seen following surgery was significant (p = 0.001). Four of the five patients completed the VFQ25 before and after surgery. Initial and final mean (SD) scores were 68.5 (13.7) and 94.1 (4.9), respectively, with a significant difference seen (p < 0.05).Conclusions: Objective improvement in best‐recorded visual acuity was seen in this cohort of patients. Anterior lenticonus was shown to have an adverse effect of vision‐specific quality of life, with improvement demonstrated following lens exchange surgery.
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