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2/2025
vol. 127 abstract:
Original article
The Multi-Luminance Mobility Test (MLMT) as a tool to analyze functional vision in patients with RPE65 gene mutations after gene therapy (voretigene neparvovec)
Martyna Mieszczak
1
,
Marika Pitnoczko
1
,
Kinga Obst
1
,
Zuzanna Niedziela-Schwartz
1
,
Piotr Rakowicz
1
,
Maciej Krawczyński
2, 3
,
Marcin Stopa
1
KLINIKA OCZNA 2025, 127, 2: 80-86
Online publish date: 2025/06/23
Introduction
Assessment of functional vision, meaning the ability to navigate independently and perform daily activities, is crucial in patients with inherited retinal dystrophies, such as those associated with the RPE65 gene mutations. The Multi-Luminance Mobility Test (MLMT) is a standardized tool for evaluating functional vision under controlled lighting conditions. We evaluated the results of the MLMT in four patients with biallelic RPE65 gene mutation before and after voretigene neparvovec (Luxturna) gene therapy. Material and methods Four patients (two with Leber's congenital amaurosis and two with retinitis pigmentosa) with confirmed biallelic RPE65 gene mutations were assessed using the MLMT before, 30 days and 90 days after subretinal gene therapy. The MLMT was performed at different levels of light intensity (1-400 lux). Scoring took into account the time to complete the course and the number of errors. The passing criterion was completing the course within ≤ 180 seconds and making ≤ 3 errors. Results Before therapy, patients exhibited significant difficulties in passing the test, especially at low light intensities. After therapy, improvement or stablization was observed in all patients – a reduction in completion time, a decrease in the number of errors, and improved accuracy. Conclusions The MLMT is a valuable tool for assessing functional vision in patients with RPE65 gene mutations and monitoring the effects of gene therapy, providing objective data on functional vision in conditions similar to everyday life. keywords:
RPE65, MLMT, Luxturna, voretigene neparvovec |
POLSKI
