Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.

Asia-Pacific Journal of Ophthalmology
Mays Talib, Camiel J F Boon

Abstract

: Retinal dystrophies (RDs) comprise relatively rare but devastating causes of progressive vision loss. They represent a spectrum of diseases with marked genetic and clinical heterogeneity. Mutations in the same gene may lead to different diagnoses, for example, retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to the same phenotype. The age at symptom onset, and the rate and characteristics of peripheral and central vision decline, may vary widely per disease group and even within families. For most RD cases, no effective treatment is currently available. However, preclinical studies and phase I/II/III gene therapy trials are ongoing for several RD subtypes, and recently the first retinal gene therapy has been approved by the US Food and Drug Administration for RPE65-associated RDs: voretigene neparvovec-rzyl (Luxturna). With the rapid advances in gene therapy studies, insight into the phenotypic spectrum and long-term disease course is crucial information for several RD types. The vast clinical heterogeneity presents another important challenge in the evaluation of potential efficacy in future treatment trials, and in establishing treatment candidacy criteria. This perspective describes...Continue Reading

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Citations

Jul 8, 2021·Clinical & Experimental Ophthalmology·Kathryn P Burdon
Jul 21, 2021·International Journal of Molecular Sciences·Céline KosterArthur A Bergen
Jul 29, 2021·American Journal of Ophthalmology·Xuan-Thanh-An NguyenCamiel J F Boon
Aug 4, 2021·Molecular Genetics and Metabolism·Berith M BalfoortMarion M Brands

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Methods Mentioned

BETA
GTPase
antisense oligonucleotides

Clinical Trials Mentioned

NCT03116113
NCT03252847
NCT03316560
NCT03913143

Software Mentioned

StreetLab
ClinVar
HomeLab

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