Goldmann-Favre Syndrome
Patient Information
Characteristics
Background and History
Enhanced S-cone syndrome, sometimes called Goldmann-Favre syndrome, is a disorder of the retina that causes increased sensitivity to blue light, decreased night blindness, and damage to the vision cells (rods and cones). It was first described by Hans Goldmann, a Swiss ophthalmologist, and Maurice Favre, a French dermatologist, in the mid-20th century.
Clinical Correlations
Difficulty seeing in dim light and loss of vision occur in the first decade of life. The condition is progressive and leads to increasing visual problems. The visual field (side vision) becomes constricted creating tunnel vision. Further damage to vision occurs when the retina develops cysts and splitting of the layers. The pigment layer beneath the retina also undergoes changes which can be seen by an eye doctor. Some patients develop a specific type of cataract at a relatively young age. There are no systemic changes associated with the disorders
Genetics
Inheritance
This is an autosomal recessive disorder which requires the presence of two mutations, one from each parent. No symptoms occur in the carrier parents. The mutated gene is called NR2E3, is located on chromosome 15 and encodes a protein responsible for the development of photoreceptors which are the cells that are detecting light.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
The diagnosis is made by an eye doctor based on the retina appearance and the abnormalities seen in a test called an ERG, or an electroretinogram. The early symptoms of night blindness, tunnel vision become worse over time as does everyday sharpness of vision. There is a large variation in vision, though, ranging from near normal to very poor vision. General health remains good throughout life. No treatment is available.
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