The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission.

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.