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Genomics to help prevent and treat age-related vision loss

16-Feb-2021

Key points from article :

Age-related macular degeneration (AMD) is an eye disease in which a person’s sight gets progressively worse over time.

Sequencing revealed multiple genetic variants associated with the disease.

Age, smoking, obesity, hypertension, and ethnicity are associated with risk of AMD.

Potential applications include genetic testing, polygenic risk scores (PRS) and gene therapies.

Early phase trials of gene therapies look promising but technical and practical difficulties remain.

Genetic testing may be valuable in patients with a strong family history or early onset AMD.

PRS can be used alone or with other risk factors to predict risk of disease, prognosis and response to treatment.

Gene therapies undergoing early phase clinical trials for both wet and dry AMD.

Clinical and public health utility of PRS remain to be proven.

Genetic testing is expected to be more useful as personalised preventative and treatment options become available.

Early but promising results with genomics in diagnosis and treatment of macular degeneration