Goldmann-Favre syndrome
Goldmann-Favre syndrome (GFS) is a rare genetic disorder that primarily affects the eye's retina. It is characterized by a group of symptoms including night blindness, retinoschisis, and vitreoretinal degeneration. The syndrome is named after the Swiss ophthalmologists Hans Goldmann and Richard Favre, who first described the condition in the mid-20th century.
Etiology[edit | edit source]
Goldmann-Favre syndrome is caused by mutations in the NRL or NR2E3 genes. These genes are involved in the development and function of photoreceptor cells in the retina, which are necessary for normal vision. Mutations in these genes disrupt the normal function of these cells, leading to the symptoms of GFS.
Symptoms[edit | edit source]
The most common symptoms of Goldmann-Favre syndrome include night blindness, retinoschisis, and vitreoretinal degeneration. Other symptoms may include cataracts, nystagmus, and glaucoma. The severity of symptoms can vary widely among individuals with GFS, even among members of the same family.
Diagnosis[edit | edit source]
Diagnosis of Goldmann-Favre syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as electroretinography and optical coherence tomography. Genetic testing can confirm a diagnosis.
Treatment[edit | edit source]
There is currently no cure for Goldmann-Favre syndrome. Treatment is symptomatic and supportive, and may include vitamin A supplementation, surgery for cataracts or retinal detachment, and low vision aids for those with significant vision loss.
Prognosis[edit | edit source]
The prognosis for individuals with Goldmann-Favre syndrome varies. Some individuals may maintain stable vision throughout their lives, while others may experience progressive vision loss. Regular follow-up with an ophthalmologist is recommended.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Goldmann-Favre syndrome is a rare disease.
| Goldmann-Favre syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
