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.

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.