PMID: 10634626 Gene: ABCA4 HGNCID: HGNC:34

Fifty-two unrelated French patients referred to the Eye University Clinic of Creteil for unilateral or bilateral exudative AMD due to any type of choroidal neovascularization (well-defined, occult, or vascularized pigment epithelium detachment) were included in this study.

SSCP analysis in a control population, obtained from 90 unrelated French individuals without any complaint of visual impairment. Our control group was not age- or sex-matched, and no ophthalmological examination was performed for these individuals.

MonDO:

Case: DiseaseAssertion: Age-related macular degeneration FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting:

GenotypingMethod: entire coding sequence of the ABCR gene using a combination of single-strand conformation polymorphism (SSCP) and direct sequence analysis of each exon

Variant: "ABCR" (ABCA4), p.Ser2255ile