title: The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission.
abstract: A new vitreoretinal heredodegenerative syndrome with a high incidence (> 40%) of retinal detachment is described. It has been observed in five families (altogether 27 subjects) without consanguinity. The affection is autosomal dominant, bilateral, and more often than not (> 70%) coupled with axial myopia exceeding 5 D. Peripheral retinal degenerations are found in about 90% of the eyes. The syndrome is characterized by a pathognomonic membrane-like structure in the vitreous cavity, the pseudo-posterior limiting layer. The pseudo-PLL is a purely intravitreal phenomenon: in contrast to other vitreoretinal syndromes, there are no vitreous condensations connected to the retina.
authors.affiliation: Universitäts-Augenklinik, Inselspital Bern, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Rossier
authors.forename: G
authors.initials: G
authors.lastname: Eisner
mesh_terms: D000293:Adolescent; D000328:Adult; D001485:Basement Membrane / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D012163:Retinal Detachment / Q000175:diagnosis; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*