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A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.
Ophthalmology. 1999 Nov; 106(11):2074-81.O

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To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy characterized by associated ocular developmental abnormalities.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.

Authors+Show Affiliations

University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, England. gblack@fs1.cmht.nwest.nhs.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10571340

Citation

Black, G C., et al. "A Novel Hereditary Developmental Vitreoretinopathy With Multiple Ocular Abnormalities Localizing to a 5-cM Region of Chromosome 5q13-q14." Ophthalmology, vol. 106, no. 11, 1999, pp. 2074-81.
Black GC, Perveen R, Wiszniewski W, et al. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology. 1999;106(11):2074-81.
Black, G. C., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., & McLeod, D. (1999). A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology, 106(11), 2074-81.
Black GC, et al. A Novel Hereditary Developmental Vitreoretinopathy With Multiple Ocular Abnormalities Localizing to a 5-cM Region of Chromosome 5q13-q14. Ophthalmology. 1999;106(11):2074-81. PubMed PMID: 10571340.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. AU - Black,G C, AU - Perveen,R, AU - Wiszniewski,W, AU - Dodd,C L, AU - Donnai,D, AU - McLeod,D, PY - 1999/11/26/pubmed PY - 1999/11/26/medline PY - 1999/11/26/entrez SP - 2074 EP - 81 JF - Ophthalmology JO - Ophthalmology VL - 106 IS - 11 N2 - 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. SN - 0161-6420 UR - https://www.unboundmedicine.com/medline/citation/10571340/A_novel_hereditary_developmental_vitreoretinopathy_with_multiple_ocular_abnormalities_localizing_to_a_5_cM_region_of_chromosome_5q13_q14_ DB - PRIME DP - Unbound Medicine ER -