A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14☆
Received 22 September 1998; accepted 28 June 1999.
Abstract
Background
To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy characterized by associated ocular developmental abnormalities.
Design
Family genetic study.
Participants
A total of 23 members, both affected and unaffected, of 1 kindred with vitreoretinopathy.
Method
Individuals within the kindred were examined clinically and blood samples taken for DNA analysis. Genetic analysis was performed for the proximal region of chromosome 5q by means of polymerase chain reaction (PCR).
Main outcome measures
Detection of vitreoretinopathy and associated abnormalities.
Results
This novel, hereditary vitreoretinopathy, showing the classic features of vitreous pathology and early-onset retinal detachments, was associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous. There were no associated systemic features. Genetic mapping with markers from the proximal region of 5q13-q14 showed linkage to a 5-cM region between the markers D5S626 and D5S2103.
Conclusions
The 5-cM region is within that implicated in the etiology of both Wagner and erosive vitreoretinopathies. This suggests that this novel condition may be allelic, refines the genetic mapping for vitreoretinopathies that map to 5q13-q14, and implicates a gene important not only in vitreous production but also in early ocular development.
Manuscript no. 98642.
1University Department of Medical Genetics and Regional Genetic Service, St. Mary’s Hospital, Manchester, England UK
2University Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester, England UK
Reprint requests to Graeme C. M. Black, FRCOphth, DPhil, Wellcome Clinician Scientist Fellow, University Department of Medical Genetics and Regional Genetic Service, St. Mary’s Hospital, Hathersage Road, Manchester, M13 OJH, England UK
☆ Supported by the Wellcome Trust (reference 51390/Z) (GB), and by the Birth Defects Association (RP).
ABSTRACT