title: Age-dependent phenotypic expression of a pattern dystrophy of the retina.
abstract: We studied a family with pattern dystrophy of the retina (PDR) in order to elucidate the clinical course of the disorder, relations between the different forms, and the mode of inheritance. Thirty-nine family members, representing three generations, underwent a thorough ophthalmological examination, with fluorescein angiography whenever a macular abnormality was suspected. Of family members over the age of 32 years, 46.7% showed signs of PDR. We classified the clinical forms of PDR in this family into four types: minimal lesion, pseudovitelliform type, butterfly-spider type, and late-stage lesion. These forms were predominant in the order cited in age groups 31-40 years, 41-50, 51-60, and > 60 years. Significant visual loss occurred only after the age of 50 years, when 8 of 14 eyes had visual acuity of less than 20/25. Inheritance was autosomal dominant. PDR presented different clinical forms in members of this family, and in successive age classes patterns of increasing severity prevailed. Thus, the different phenotypic forms apparently represent transient stages related to the age of the patient.
authors.affiliation: University Eye Hospital, Basel, Switzerland.
authors.forename: U
authors.initials: U
authors.lastname: Thomann
authors.forename: E R
authors.initials: ER
authors.lastname: Büchi
authors.forename: M
authors.initials: M
authors.lastname: Suppiger
authors.forename: C
authors.initials: C
authors.lastname: Kryenbühl
authors.forename: I
authors.initials: I
authors.lastname: Schipper
authors.forename: R
authors.initials: R
authors.lastname: Spiegel
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000473:pathology*; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D014792:Visual Acuity