Goldmann-Favre syndrome

How is Goldmann-Favre syndrome diagnosed?

Goldmann-Favre syndrome may be suspected following ophthalmoscopy examination. Ophthalmoscopy, also known as funduscopy, allows the doctor to look at the back part of the eye (fundus), which includes the retina, optic disc, choroid, and blood vessels. The architecture of the retina in people with Goldmann- Favre syndrome differs remarkably from normal at all disease stages. Examples of Goldmann-Favre syndrome retinal abnormalities that can be demonstrated by opthalmoscopy include clumps of pigment and atrophic lesions.

Other tests that may be used in diagnosing Goldmann-Favre syndrome include optical coherence tomography, electroretinograms, and genetic tests. Optical coherence tomography produces specialized photos that show the layers of the retina in cross section. In people with Goldmann-Favre syndrome, optical coherence tomography shows increased retinal thickening. Electroretinograms measure the activity of the cells in the retina. In Goldmann-Favre syndrome, electroretinograms may demonstrate no or diminished activity in these cells. Genetic testing to search for disease causing mutations in the NR2E3 gene may be used to confirm a suspected diagnosis.

Last updated on 05-01-20

What is Goldmann-Favre syndrome?

Goldmann-Favre syndrome , also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann- Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A.

Last updated on 05-01-20

What is the typical prognosis for people with Goldmann-Favre syndrome?

It is difficult to predict how Goldmann-Favre syndrome may affect a person over time, but tipically, the disease is progressive. Symptoms and symptom severity can vary considerably from person to person. Some people with Goldmann-Favre syndrome experience vision loss and retinal involvement from childhood, while others maintain retinal function into old age.

In general, in childhood Goldmann-Favre syndrome may cause accommodative esotropia (eye-crossing) and poor night vision. Farsightedness and night blindness appear to be common features in adults. Other variable signs and symptoms in adults include reduced vision in very bright light, variable degrees of central vision loss, astigmatism, retinoschisis, and cystoid macular edema. One review found vision (visual acuity) to range from normal to severely reduced among people with retinas affected by NR2E3 mutations. The presence of retinoschisis, may be associated with poorer vision. Some studies have shown improvement of the vision with treatment.

While NR2E3 mutations are not identified in all people with Goldmann-Favre syndrome, many cases are caused by mutations in this gene. Symptom and symptom severity is likely influenced by which NR2E3 mutations are present, as well as other poorly understood genetic and environmental factors.

Last updated on 05-01-20

How might Goldmann Favre syndrome be treated?

While treatment options for complications such as, retinoschisis and cystoid macular edema may be recommended, currently there is not a cure or specific targeted treatment for Goldmann Favre syndrome.

Laser photocoagulation may benefit macular retinoschisis maybe because it results in the debridement of diseased retinal pigment epithelial (RPE) cells and replacement by new cells decreasing the fluid within the macular cysts that could form in the disease.

Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine. Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Goldmann-Favre syndrome

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet. 2004 Sep 1;13(17):1893-902. Epub 2004 Jun 30.

Last updated on 04-27-20

Where To Start

Retina general info

The University of Washington's Neuroscience for Kids Web site has a resource page on the Retina which explains how our rods and cones work. Click on the University of Washington to view the page.

Last updated on 04-27-20

Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: Vision of Children Foundation (VOC) 12671 High Bluff Drive, Suite 300
San Diego, CA, 92130 , United States
Phone: 858-799-0810 Fax : 858-794-2348 Email: cdenofrio@visionofchildren.org Url: http://www.visionofchildren.org

Connect with other users with Goldmann-Favre syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App