Macular Dystrophy, Patterned 3

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: 

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.

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.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant