Study of Color Vision Loss and Retinal Changes in Inherited Retinal Dystrophies Including a New Color Test for Patients with Severe Vision Loss

What this Trial Is About

Researchers are studying inherited retinal dystrophies IRDs, a group of genetic disorders that cause progressive damage to the retinas photoreceptors, leading to vision loss and color vision problems. This observational study aims to understand how color vision deficits relate to changes in retinal structure and genetics in affected individuals, as well as to evaluate a new color vision test designed for people with very poor central vision. The investigation includes a diverse group of IRD patients with various genetic types and disease severities, along with control participants without retinal disease. Participants will undergo a series of assessments including standardized color vision testing, best-corrected visual acuity BCVA measurement, and advanced retinal imaging using spectral-domain optical coherence tomography SD-OCT to examine the ellipsoid zone and other retinal layers. The new Moji Low-Vision Color Discrimination Test Moji LVCDT, designed for individuals with severe vision loss, will be compared against established color vision tests to validate its accuracy and usefulness. Both IRD patients and control subjects will complete these evaluations during a single study visit. During the study visit, participants will complete color vision assessments including the Moji LVCDT, Ishihara plates, and the low-vision-adapted Cambridge Color Test to measure chromatic discrimination. Retinal imaging and visual acuity tests will be performed to correlate color vision results with retinal structure. Researchers will analyze the relationship between color vision loss, retinal biomarkers, genetic mutations, and age. The main outcomes include comparing the Moji tests performance to other tests and assessing its ability to detect color vision in people with extreme low vision. The study aims to improve understanding of color vision loss in IRD and to establish a new tool for evaluating color discrimination in low-vision patients.

Natural History Study of Inherited Retinal Diseases