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

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

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

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

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

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

• Retinal diseases
• Genetic disorders
• Eye diseases

NIH genetic and rare disease info

• NIH info on Goldmann-Favre syndrome

Goldmann-Favre syndrome is a rare disease.

Goldmann-Favre syndrome Resources
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