Macular Dystrophy, Patterned 3
Patient Information
Characteristics
Background and History
This is a newly described disorder of inherited retinal disease reported from the West Indies.
Clinical Correlations
Little is known about the clinical features. The retinal disease has its onset at about age 30 years and symptoms usually after that age. Loss of vision from that time is progressive throughout life. The appearance of the retina and associated structures resembles that of crocodile skin which result from thickening alternating with thinning. There are no health problems other than those of the eye.
Genetics
Inheritance
This is a condition inherited in an autosomal dominant pattern. Affected parents can pass on the mutant gene with a 50% probability thus creating a vertical pattern.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
Vision problems have their onset at about 30 years of age. Initial vision loss is relatively minor but progressively worsens throughout life. Longevity is not impacted. The diagnosis would be made by an eye doctor. No information is available regarding treatment.
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