Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
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.


METHODS
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.
Ticho
Benjamin H
BH
Hope Children's Hospital, Oak Lawn, IL, USA. bkticho@comcast.net
Hilchie-Schmidt
Clair
C
Egel
Robert T
RT
Traboulsi
Elias I
EI
Howarth
Rachel J
RJ
Robinson
David
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D015783:Aniridia / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005099:Exotropia / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005584:Fovea Centralis / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D008297:Male; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins