A Prospective, Observational, Non-Interventional Clinical Study of Participants With Choroideremia: The NIGHT Study

Choroideremia (CHM) is a rare, X-linked recessive, degenerative disease of the retina and the choroid that predominantly affects males and involves progressive degeneration of the choroid and the photoreceptor layer, secondary to loss of the retinal pigment epithelium (RPE).1 –4 CHM is caused by mutations in the CHM gene, which encodes Rab Escort Protein 1 (REP1).1–3 CHM variably affects females because of X-chromosome inactivation.2,3 CHM leads to a clinical presentation which is milder in many female carriers compared with X-linked retinitis pigmentosa.

Source: American Journal of Ophthalmology - February 2, 2024 Category: Opthalmology Authors: Robert E. MacLaren, Byron L. Lam, M. Dominik Fischer, Frank G. Holz, Mark E. Pennesi, David G. Birch, Eeva-Marja Sankila, Isabelle Anne Meunier, Kimberly E. Stepien, Juliana Maria Ferraz Sallum, Jiang Li, Dan Yoon, Sushil Panda, James A. Gow, NIGHT Study Tags: Original Articles Source Type: research