Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.

Purpose: Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients prompted this study of reading performance as a potential outcome measure for a future clinical trial.

Methods: Clinically and molecularly diagnosed patients with BCM ( = 17; ages 15-63 years) and subjects with normal vision ( = 22; ages 18-72 years) were examined with the MNREAD acuity chart for both uniocular and binocular conditions.

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.

Purpose: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional improvement.

Methods: Patients with RP (n = 20) and LCA due to CEP290 (n = 12) or NPHP5 (n = 6) mutations were studied. A patient with CEP290 mutations but mild retinal degeneration was included.

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for Clinical Treatment Trials.

Recessively-inherited gene mutations cause an unusual retinopathy with abnormally-increased short-wavelength sensitive cone (S-cone) function, in addition to reduced rod and long/middle-wavelength sensitive cone (L/M-cone) function. Progress toward clinical trials to treat patients with this otherwise incurable retinal degeneration prompted the need to determine efficacy outcome measures. Comparisons were made between three computerized perimeters available in the clinic.