Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)

Summary

Background: \- People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss. The medicine interferon gamma-1b may help people with these diseases. Objectives: \- To see if interferon gamma-1b eyedrops are safe for people with RCD or ESCS. To see if the medicine can decrease retina fluid and help prevent vision loss. Eligibility: \- People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene. Design: * Participants will be screened with medical history, physical exam, eye exam, and blood tests. * Participants will stay at NIH for 3 days and get the first eyedrops. * Participants will give themselves 4 study eyedrops 4 times daily for 2 weeks and keep a diary. * Participants will have 5 outpatient visits over 8 weeks, 2 of which are telephone assessments. They may have: * Repeats of screening tests. * Questionnaires. * Small piece of skin removed. * Eye exams, including eye dilation and tasks on computer screens. * Fluorescein angiography. A dye injected into an arm vein will travel to the blood vessels in the eyes. A camera will take pictures. * Electroretinography. Participants will sit in the dark wearing eyepatches. A small electrode will be taped to the forehead. After 30 minutes, researchers will remove the eyepatches and put in numbing eyedrops and contact lenses. Participants will watch flashing lights. * Electrooculography. Electrodes will be attached outside of the eyes and eye function will be measured in the dark and the light. * Participants will have a follow-up visit after 52 weeks.

Timeline

Start

2015-01-14

Primary completion

2018-06-01

Completion

2018-07-26

Drugs

Indications