Goldmann-Favre syndrome

Overview

Type of disease: Rare conditions

Goldmann-Favre syndrome, also known as 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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