Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.
OBJECTIVE
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.
Vrabec
Tamara R
TR
Henry and Corinne Bower Laboratory, the Eye Research Institute and Wills Eye Hospital, Philadelphia, Pennsylvania 19107, USA.
Tantri
Avinash
A
Edwards
Albert
A
Frost
Arcilee
A
Donoso
Larry A
LA
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005799:Genes, Dominant; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017422:Sequence Analysis, DNA
C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins