Document Detail

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
MedLine Citation:
PMID:  17148041     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy.
CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 + 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.
Benjamin H Ticho; Clair Hilchie-Schmidt; Robert T Egel; Elias I Traboulsi; Rachel J Howarth; David Robinson
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  27     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-12-06     Completed Date:  2007-01-23     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  145-9     Citation Subset:  IM    
Hope Children's Hospital, Oak Lawn, IL, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*
Aniridia / genetics*
Blepharoptosis / genetics
DNA Mutational Analysis
Exotropia / genetics*
Eye Abnormalities / genetics*
Eye Proteins / genetics*
Fovea Centralis / abnormalities*
Homeodomain Proteins / genetics*
In Situ Hybridization, Fluorescence
Introns / genetics
Iris / abnormalities
Paired Box Transcription Factors / genetics*
Repressor Proteins / genetics*
Reg. No./Substance:
0/Eye Proteins; 0/Homeodomain Proteins; 0/PAX6 protein; 0/Paired Box Transcription Factors; 0/Repressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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