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

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.