An optometrist’s guide to the top candidate inherited retinal diseases for gene therapy

Fully revised, the new third edition of the Oxford Handbook of Ophthalmology is a concise, systematic guide to all aspects of diagnosis, assessment, and ongoing management of ophthalmic diseases and conditions. Closely aligned with the curriculum for the ophthalmic postgraduate exams, and containing the most up-to-date clinical guidance and practical advice, this is the essential resource for all those caring for ophthalmic patients. It covers the key information for both trainees and specialists, from clinical methods and the use of ophthalmic instruments, to basic perioperative care and advanced life support protocols. It also includes new chapters covering laser procedures and theatre notes, as well as new sections on emerging technologies such as adaptive optics and gene therapy for retinal diseases.

Download Full-text

Update on ocular gene therapy and advances in treatment of inherited retinal diseases and exudative macular degeneration

Current Opinion in Ophthalmology ◽

10.1097/icu.0000000000000256 ◽

2016 ◽

Vol 27 (3) ◽

pp. 268-273 ◽

Cited By ~ 12

Author(s):

Robert B. Garoon ◽

J. Timothy Stout

Keyword(s):

Gene Therapy ◽

Macular Degeneration ◽

Retinal Diseases ◽

Exudative Macular Degeneration

Download Full-text

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

International Journal of Molecular Sciences ◽

10.3390/ijms22137207 ◽

2021 ◽

Vol 22 (13) ◽

pp. 7207

Author(s):

Manar Aoun ◽

Ilaria Passerini ◽

Pietro Chiurazzi ◽

Marianthi Karali ◽

Irene De Rienzo ◽

...

Keyword(s):

Gene Therapy ◽

Patient Management ◽

Autosomal Recessive ◽

Age Of Onset ◽

Retinal Dystrophy ◽

Multidisciplinary Teams ◽

Retinal Diseases ◽

Diagnostic Management ◽

Generation Sequencing

Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are caused by mutations in >250 genes. Variants in the RPE65 gene account for 0.6–6% of RP and 3–16% of LCA/EORD cases. Voretigene neparvovec is a gene therapy approved for the treatment of patients with an autosomal recessive retinal dystrophy due to confirmed biallelic RPE65 variants (RPE65-IRDs). Therefore, the accurate molecular diagnosis of RPE65-IRDs is crucial to identify ‘actionable’ genotypes—i.e., genotypes that may benefit from the treatment—and is an integral part of patient management. To date, hundreds of RPE65 variants have been identified, some of which are classified as pathogenic or likely pathogenic, while the significance of others is yet to be established. In this review, we provide an overview of the genetic diagnostic workup needed to select patients that could be eligible for voretigene neparvovec treatment. Careful clinical characterization of patients by multidisciplinary teams of experts, combined with the availability of next-generation sequencing approaches, can accelerate patients’ access to available therapeutic options.

Download Full-text