A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14

Background: To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy charac terized by associated ocular developmental abnormalities. Design: Family genetic study. Participants: A total of 23 members, both affected and unaffected, of 1 kin dred with vitreoretinopathy. Method: Individuals within the kindred were examined clinically and blood s amples taken for DNA analysis. Genetic analysis was performed for the proxi mal region of chromosome 5q by means of polymerase chain reaction (PCR), Main Outcome Measures: Detection of vitreoretinopathy and associated abnorm alities. Results: This novel, hereditary vitreoretinopathy, showing the classic feat ures of vitreous pathology and early-onset retinal detachments, was associa ted with a variety of ocular developmental abnormalities, including posteri or embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreou s. There were no associated systemic features. Genetic mapping with markers from the proximal region of 5q13-q14 showed linkage to a 5-cM region betwe en the markers D5S626 and D5S2103, Conclusions: The 5-cM region is within that implicated in the etiology of b oth Wagner and erosive vitreoretinopathies. This suggests that this novel c ondition may be allelic, refines the genetic mapping for vitreoretinopathie s that map to 5q13-q14, and implicates a gene important not only in vitreou s production but also in early ocular development.