Renal-coloboma syndrome: Report of a novel PAX2 gene mutation

Gary W. Chung, Albert O. Edwards, Lisa A. Schimmenti, Glenda S. Manligas, Yao Hua Zhang, Robert Ritter

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia. DESIGN: Observational case report and experimental study. METHODS: Mutational analysis of the PAX2 gene in a family. RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism. CONCLUSIONS: The causal relationship between PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.

Original languageEnglish (US)
Pages (from-to)910-914
Number of pages5
JournalAmerican journal of ophthalmology
Issue number6
StatePublished - 2001
Externally publishedYes

Bibliographical note

Funding Information:
We would like to thank the family for participating in this study. Dr. Edwards was supported by NIH EY 12699, career development awards from Research to Prevent Blindness and the Foundation Fighting Blindness, the Schollmaier Foundation, and unrestricted departmental funds from Research to Prevent Blindness. Dr. Schimmenti is supported by NIH-KO8 HL03515, the UCLA Academic Senate Council on Research, the Child Health Research Award to the UCLA Department of Pediatrics, and Susan and Leslie Gonda.


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