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Abstract #19382 Published in IGR 9-3
Chromosomal abnormalities and glaucoma: A case of congenital glaucoma associated with 9p deletion syndrome
Saha K; Lloyd IC; Russell-Eggitt IM; Taylor DSIOphthalmic Genetics 2007; 28: 69-72
PURPOSE: To present a case of congenital glaucoma associated with 9p22.3-pter deletion as the sole identified genetic abnormality. To compile cases of chromosome 9p deletion associated with congenital glaucoma from the literature. METHOD: A review of case notes of the proband. Literature search using PubMed and Medline to identify other cases of chromosome 9p deletion associated with congenital glaucoma. RESULTS: A total of four cases of chromosome 9p deletion associated with congenital glaucoma have now been reported in the literature. CONCLUSION: A female infant with a chromosome 9p22.3-pter deletion presented with congenital glaucoma in addition to systemic features typical of the 9p deletion syndrome. Congenital glaucoma is not an invariant feature of 9p deletion syndrome, nonetheless, 9p24 may localise a gene implicated in the condition.
Dr. K. Saha, Manchester Royal Eye Hospital, Oxford Road, Manchester, M139WH, UK. konalsaha@hotmail.com
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)