Acta Ophthalmologica Polonica
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eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
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2/2025
vol. 127
 
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Original article

Multi-Luminance Mobility Test (MLMT) as a tool for assessing functional vision in patients with RPE65 gene mutations following 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

  1. Eye Diseases Clinic, Department of Eye Diseases and Optometry, Poznan University of Medical Sciences, Poland
  2. Department of Medical Genetics, Poznan University of Medical Sciences, Poland
  3. Genesis Medical Genetics Center in Poznan, Poland
KLINIKA OCZNA 2025, 127, 2: 80-86
Online publish date: 2025/06/23
Article files
- KO-00549_EN.pdf  [0.24 MB]
- KO-00549_PL.pdf  [0.25 MB]
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2. Chung DC, McCague S, Yu ZF, et al. Novel mobility test to assess functional vision in patients with inherited retinal dystrophies. Clin Exp Ophthalmol 2018; 46: 247-259.
3. Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet 2017; 390: 849-860.
4. Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber’s congenital amaurosis. N Engl J Med 2008; 358: 2240-2248.
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6. Jaśkowiak K, Stopa M, Krawczyński M, et al. Inherited retinal dystrophies caused by RPE65 gene mutation: clinical presentation, economic and social burden. Klin Oczna 2022; 124: 7-15.
7. Bennett J, Ashtari M, Wellman J, et al. AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med 2012; 4: 120ra15.
8. Jacobson SG, Aleman TS, Cideciyan AV, et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A 2005; 102: 6177-6182.
9. Bennett J, Wellman J, Marshall KA, et al. Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet 2016; 388: 661-672.
10. Geruschat DR, Bittner AK, Dagnelie G. Orientation and mobility assessment in retinal prosthetic clinical trials. Optom Vis Sci 2012; 89: 1308-1315.
11. Geruschat DR, Turano KA, Stahl JW. Traditional measures of mobility performance and retinitis pigmentosa. Optom Vis Sci 1998; 75: 525-537.
12. Stone EM. Retinal Information Highway: From Photonto Perception – The Proctor Lecture. Invest Ophthalmol Vis Sci 2007; 48: 4848-4861.
13. Soong GP, Lovie-Kitchin JE, Brown B. Does the mobility performance of visually impaired adults improve immediately after orientation and mobility training? Optom Vis Sci 2001; 78: 657-666.
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