title: Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.
abstract: Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia.
authors.affiliation: School of Medicine, University of Minnesota, Minneapolis.
authors.forename: Susan
authors.initials: S
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.affiliation: School of Medicine, University of Minnesota, Minneapolis.
authors.forename: Richard A
authors.initials: RA
authors.lastname: King
authors.affiliation: Marshfield Clinic, Marshfield, Wisconsin.
authors.forename: Murray
authors.initials: M
authors.lastname: Brilliant
authors.affiliation: Marshfield Clinic, Marshfield, Wisconsin.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Anderson
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis.
authors.forename: Cheri
authors.initials: C
authors.lastname: Schoonveld
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis; Department of Ophthalmology & Visual Neurosciences, University of Minnesota, Minneapolis. Electronic address: summe001@umn.edu.
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
mesh_terms: D000369:Aged, 80 and over; D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004108:Dilatation, Pathologic; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D057972:Posterior Eye Segment / Q000473:pathology*; D015422:Scleral Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D035781:Siblings; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology*; D014792:Visual Acuity