Document Detail


Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
MedLine Citation:
PMID:  18609495     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Papillorenal syndrome is an autosomal dominant entity due to PAX2 gene mutation, involving optic nerve and renal malformations. METHODS: The authors report a 19-year-old man with bilateral macular detachment associated with optic nerve pit in one eye and morning glory syndrome in the other eye. The patient underwent three-port pars plana vitrectomy, endolaser photocoagulation, and C3F8 gas tamponade in his best eye. A medical history of vesicoureteric reflux and kidney hypoplasia led to genetic analysis. RESULTS: Molecular genetic PAX2 analysis revealed a novel nondescribed mutation in exon 3. One year postoperatively, ophthalmologic outcomes were satisfactory with complete flattening of the retina and improvement of the best-corrected visual acuity to 11/10. CONCLUSIONS: PAX2 is involved in the optic vesicles, genital tracts, kidney, and central nervous system embryogenic development. The association of optic nerve and renal malformations should lead to the suspicion of papillorenal syndrome with PAX2 mutation.
Authors:
S Samimi; C Antignac; C Combe; D Lacombe; M-B Renaud Rougier; J-F Korobelnik
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of ophthalmology     Volume:  18     ISSN:  1120-6721     ISO Abbreviation:  Eur J Ophthalmol     Publication Date:    2008 Jul-Aug
Date Detail:
Created Date:  2008-07-08     Completed Date:  2008-09-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9110772     Medline TA:  Eur J Ophthalmol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  656-8     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, Pellegrin Hospital, Bordeaux, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Codon, Nonsense*
Coloboma / diagnosis,  genetics*
Exons / genetics
Functional Laterality
Humans
Kidney / abnormalities*
Male
Optic Disk / abnormalities,  pathology
Optic Nerve / abnormalities*,  pathology
PAX2 Transcription Factor / genetics*
Retinal Detachment / diagnosis,  etiology*
Syndrome
Tomography, Optical Coherence
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/PAX2 Transcription Factor; 0/PAX2 protein, human

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


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