Purpose: To describe the clinical features and identify the mutation responsible for an autosomal dominant macular degeneration occurring in a four-generation family.
Methods: Family members underwent clinical examination and genealogical characterization. Mutation screening of the ELOVL4 gene was performed.
Results: Patients reported visual loss occurring at a mean age of 20 years. Fundus examination revealed varying degrees of central macular atrophy with or without flecks in all affected individuals. DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy. Genealogical analysis showed that this family represents a new affected branch of a previously described 12-generation family (31 branches) with this disorder.
Conclusions: We characterized a new branch of a family with autosomal dominant Stargardt-like macular dystrophy. Identification of the disease-causing gene allows for improved genetic counseling of affected individuals.