OMIM ID:
Macular Degeneration, Early-Onset
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Onset of distorted vision has been reported as early as the fourth decade of life with clinical evidence of pigmentary changes in the macula noted in the fifth decade. Large areas of central RPE atrophy can be seen. In the single family reported (a father and his 4 sons), there is considerable clinical heterogeneity in the RPE changes in the fundus. Acuity is variable depending upon the stage of disease.
Systemic Features
No systemic disease has been reported.
Genetics
Inheritance
Heterozygous mutations in the FBN2 gene, encoding Fibrillin 2, a component protein of the extracellular matrix that segregates with this presumably autosomal dominant macular disease have been reported.
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