RPE65

Disease Category: autosomal dominant

Known Clinical Trials: yes

Part of Research Study: yes

Treatment Options: 

Targeted Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: 

IN THE NEWS

ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

Inherited retinal dystrophy caused by confirmed biallelic mutations in the RPE65 gene, which encodes all-trans retinyl ester isomerase, an enzyme critical to the visual cycle, is a serious and sight-threatening autosomal recessive genetic disorder that causes a severe form of rod-cone mediated IRD that eventually progresses to complete blindness.

The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis

Xue Wang,    Chaofeng Yu,      Radouil T. Tzekov

Yihua Zhu, and Wensheng Li, Orphanet Journal of Rare Diseases, Volume 15, Article #: 49, Published: 14 February 2020.

https://doi.org/10.1186/s13023-020-1304-1

RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA.

Read

ADD NEW ARTICLE

Update

ADD NEW ARTICLE

Update