title: Clinical and molecular genetic  study of 12 Italian families with autosomal recessive Stargardt disease.
abstract: Stargardt  disease was diagnosed in 12 patients from 12 families using complete  ophthalmologic examination, fundus photography, fundus autofluorescence, and  spectral-domain optical coherence tomography. DNA was extracted for polymerase  chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic  counseling and eye examination were offered to 16 additional family members.  Various patterns of presentation were observed in patients with clinical  diagnoses of Stargardt disease. The genetic study identified 2 mutations in  75% of families (9/12); a second mutation could not be found in the remaining  25% of families (3/12). The most frequent mutation was G1961E, found in 17% of  families (2/12). This finding is similar to that of a previous analysis report  of an Italian patient series. Four new mutations were also identified:  Tyr1858Asp, Leu1195fsX1196, p.Tyr850Cys, and p.Thr959Ala. Our results suggest  that PCR and direct DNA sequencing are the most appropriate techniques for the analysis  of the ABCA4 gene. However, this method requires supplementation with  specific PCR analysis to diagnose large deletions. The study of the families  identified healthy carriers and affected subjects in presymptomatic stages and  was also useful for evaluating the risk of transmission to progeny. Combined  ophthalmologic and genetic evaluation enabled better clinical management of these  families.
authors.affiliation: Eye Clinic, Department of Clinical Science "Luigi Sacco", Sacco Hospital, University of Milan, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Oldani
authors.forename: S
authors.initials: S
authors.lastname: Marchi
authors.forename: A
authors.initials: A
authors.lastname: Giani
authors.forename: S
authors.initials: S
authors.lastname: Cecchin
authors.forename: E
authors.initials: E
authors.lastname: Rigoni
authors.forename: A
authors.initials: A
authors.lastname: Persi
authors.forename: D
authors.initials: D
authors.lastname: Podavini
authors.forename: A
authors.initials: A
authors.lastname: Guerrini
authors.forename: A
authors.initials: A
authors.lastname: Nervegna
authors.forename: G
authors.initials: G
authors.lastname: Staurenghi
authors.forename: M
authors.initials: M
authors.lastname: Bertelli
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006801:Humans; D007558:Italy; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters