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.^[1] 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.^[2] Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.^[2]Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A.^[3][4] 

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.^[5] Examples of Goldmann-Favre syndrome retinal abnormalities that can be demonstrated by opthalmoscopy include clumps of pigment and atrophic lesions.^[5]

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.^[5] Electroretinograms measure the activity of the cells in the retina. In Goldmann-Favre syndrome, electroretinograms may demonstrate no or diminished activity in these cells.^[6][7] Genetic testing to search for disease causing mutations in the NR2E3 gene may be used to confirm a suspected diagnosis.^[6] 

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.^[8][9]

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.^[4]

Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.^[10] Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema.^[3][4] 

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.^[8][11]

In general, in childhood Goldmann-Favre syndrome may cause accommodative esotropia (eye-crossing) and poor night vision.^[12] 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,^[13] variable degrees of central vision loss,^[8] astigmatism,  retinoschisis, and cystoid macular edema.^[8] 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.^[8] Some studies have shown improvement of the vision with treatment.^[3]

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. 

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.