Enhanced S-Cone Syndrome

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.

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.