Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.

ABSTRACT:

Background

Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive cone opsins. Recent evidence shows sufficient structural integrity of cone photoreceptors in BCM to warrant consideration of a gene therapy approach to the disease. In the present study, the vision in BCM is examined, specifically seeking clinically-feasible outcomes for a future clinical trial.

Methods

BCM patients (n = 25, ages 5-72) were studied with kinetic and static chromatic perimetry, full-field sensitivity testing, and eye movement recordings. Vision at the fovea and parafovea was probed with chromatic microperimetry.

Results

Kinetic fields with a Goldmann size V target were generall

SUBMITTER: Luo X 

PROVIDER: S-EPMC4409040 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature