CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.

ABSTRACT:

Purpose

Choroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect approximately 1 in 50,000 male patients. It is characterized by progressive degeneration of the retinal pigment epithelium, choroid, and photoreceptors, resulting in visual impairment and blindness. There is an unmet need in choroideremia, because currently, there are no approved treatments available for patients with the disease.

Methods

We review the patient journey, societal impact, and emerging treatments for patients with choroideremia.

Results

Its relative rarity and similarities with other retinal diseases in early years mean that diagnosis of choroideremia can often be delayed. Furthermore, its impact on a

SUBMITTER: Pennesi ME 

PROVIDER: S-EPMC7347087 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature