Goldmann–Favre syndrome

A rare genetic disorder affecting the eyes

Goldmann–Favre syndrome is a rare genetic disorder that affects the retina of the eye. It is characterized by a combination of features seen in both enhanced S-cone syndrome and vitreoretinal degeneration. This condition is inherited in an autosomal recessive pattern.

Genetics

Goldmann–Favre syndrome is caused by mutations in the NR2E3 gene, which plays a crucial role in the development and function of the retina. The NR2E3 gene is responsible for the regulation of photoreceptor cell development, particularly the balance between rod cells and cone cells. Mutations in this gene lead to an overproduction of S-cones (short-wavelength cones) and a reduction in rod cells, resulting in the symptoms associated with the syndrome.

Autosomal recessive inheritance pattern

Clinical Features

Individuals with Goldmann–Favre syndrome typically present with a variety of ocular symptoms, including:

• Night blindness (nyctalopia) due to rod cell dysfunction.
• Decreased visual acuity.
• Visual field defects, often with a ring scotoma.
• Abnormal electroretinogram (ERG) findings, showing a reduced or absent rod response and an enhanced S-cone response.
• Vitreous degeneration, which can lead to vitreous hemorrhage or retinal detachment.
• Cataracts may develop in some patients.

Diagnosis

The diagnosis of Goldmann–Favre syndrome is based on clinical examination, family history, and specialized tests such as an ERG. Genetic testing can confirm the diagnosis by identifying mutations in the NR2E3 gene.

Management

There is currently no cure for Goldmann–Favre syndrome. Management focuses on monitoring and treating complications. Regular ophthalmologic examinations are essential to detect and manage issues such as cataracts or retinal detachment. Low vision aids and rehabilitation may help individuals cope with visual impairment.

Prognosis

The prognosis for individuals with Goldmann–Favre syndrome varies. While the condition leads to progressive vision loss, the rate of progression and severity can differ among patients. Early diagnosis and management of complications can help preserve vision for as long as possible.

Related pages

• Enhanced S-cone syndrome
• Vitreoretinal degeneration
• Retinitis pigmentosa
• Night blindness