Living with Goldmann-Favre syndrome
An inherited eye disease of the retina with night blindness, vision loss, and extra sensitivity to blue light.
Understanding Goldmann-Favre syndrome
People are born with too many blue cones, fewer red and green cones, and few if any working rods (the cells for dim light). This causes increased sensitivity to blue light, varying red and green color vision, night blindness from early life, vision loss, and degeneration of the retina. It is usually noticed in childhood and the teen years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these:
- Night blindness from early life
- Increased sensitivity to blue light
- Changes in red and green color vision
- Vision loss
- Retinal degeneration
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NR2E3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Vision of Children Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NR2E3 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: enhanced s-cone syndrome 1; favre hyaloideoretinal degeneration; retinoschisis with early nyctalopia
Patient organizations
- The Vision of Children FoundationGoldmann-Favre syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Goldmann-Favre syndrome.
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