title: Pattern dystrophies of the retinal pigment epithelium.
abstract: Pattern dystrophies of the retinal pigment epithelium are infrequent fundus abnormalities arranged in various patterns of dots, lines and branches. The basic lesion appears to be yellow deposits of abnormal lipofuscin accumulated within degenerated retinal pigment epithelium cells. Examinations were carried out on two families who had developed different patterned alterations in the retinal pigment epithelium. The proband of family 1 had diffuse changes associated with equatorial folds. One sister had a macular alteration. A daughter was normal; a son had bilateral atrophy of the temporal retinal pigment epithelium. The proband of family 2 had bilateral, symmetrical retinal pigment epithelium lesions that simulated fundus flavimaculatus. His first daughter had a central lesion in her right eye. The second daughter, a peripapillary crescent of hyperpigmentation in her right eye, and circumpapillary chorioretinal atrophy associated with foveolar abnormalities in the left. This report provides further evidence that variable types of pattern dystrophy can occur within a single family pedigree and support the current opinion that all forms of pattern dystrophies are variants of a single pathogenic mechanism.
authors.affiliation: Department of Opthalmology, University of Perugia, School of Medicine, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Daniele
authors.forename: A
authors.initials: A
authors.lastname: Carbonara
authors.forename: C
authors.initials: C
authors.lastname: Daniele
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: F
authors.initials: F
authors.lastname: Orcidi
mesh_terms: D000328:Adult; D000368:Aged; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D014792:Visual Acuity