Overview
Goldmann-Favre syndrome (also called enhanced S-cone syndrome or ESCS) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. It is caused by changes in a gene called NR2E3, which normally helps the retina develop the right balance of light-sensing cells (called rods and cones). In people with this condition, there are too many S-cones (the cells that detect blue-violet light) and not enough rod cells (which help with night vision). This imbalance causes the retina to work poorly over time. The most noticeable early symptom is difficulty seeing in dim light or at night, often starting in childhood or the teenage years. Over time, people may also develop retinoschisis (splitting of the retinal layers), cataracts, and a gradual loss of central or side vision. Some people develop abnormal deposits in the retina called pigmentary changes. There is currently no cure for Goldmann-Favre syndrome. Treatment focuses on managing complications — for example, surgery or laser treatment for retinal problems, and cataract removal when needed. Low vision aids and visual rehabilitation can help people make the most of their remaining sight. Regular monitoring by a retinal specialist is very important to catch and treat complications early.
Key symptoms:
Poor vision in dim light or at night (night blindness)Gradual loss of side (peripheral) visionGradual loss of central vision over timeSplitting of the retinal layers (retinoschisis)Clouding of the eye lens (cataracts)Abnormal pigment deposits in the retinaSensitivity to bright light (photophobia)Difficulty adjusting from bright to dark environmentsReduced color vision, especially for blue-violet colorsFloaters or flashes of light in the visual field
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Goldmann-Favre syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Goldmann-Favre syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How advanced is my retinal disease right now, and how quickly do you expect it to progress?,Should other members of my family be tested for this condition?,Are there any clinical trials or gene therapy studies I might be eligible for?,What signs should prompt me to seek emergency eye care?,What low vision aids or rehabilitation services do you recommend for my current level of vision?,Is there any role for vitamin A or other supplements in my case?,How often should I have my eyes checked, and what tests will be done at each visit?
Common questions about Goldmann-Favre syndrome
What is Goldmann-Favre syndrome?
Goldmann-Favre syndrome (also called enhanced S-cone syndrome or ESCS) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. It is caused by changes in a gene called NR2E3, which normally helps the retina develop the right balance of light-sensing cells (called rods and cones). In people with this condition, there are too many S-cones (the cells that detect blue-violet light) and not enough rod cells (which help with night vision). This imbalance causes the retina to work poorly over time. The most noticeable early symptom is diffic
How is Goldmann-Favre syndrome inherited?
Goldmann-Favre syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Goldmann-Favre syndrome typically begin?
Typical onset of Goldmann-Favre syndrome is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Goldmann-Favre syndrome?
9 specialists and care centers treating Goldmann-Favre syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.