title: Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.
abstract: Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.
authors.affiliation: Biomedical Research and Study Centre, Riga LV-1067, Latvia.
authors.forename: Māreta
authors.initials: M
authors.lastname: Audere
authors.affiliation: Biomedical Research and Study Centre, Riga LV-1067, Latvia.
authors.forename: Katrīna
authors.initials: K
authors.lastname: Rutka
authors.affiliation: Pauls Stradins Clinical University Hospital, Riga LV-1002, Latvia.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Šepetiene
authors.affiliation: Biomedical Research and Study Centre, Riga LV-1067, Latvia.
authors.forename: Baiba
authors.initials: B
authors.lastname: Lāce