Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
OBJECTIVE
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.
Samimi
S
S
Department of Ophthalmology, Pellegrin Hospital, Bordeaux, France.
Antignac
C
C
Combe
C
C
Lacombe
D
D
Renaud Rougier
M-B
MB
Korobelnik
J-F
JF
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D018389:Codon, Nonsense; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D007839:Functional Laterality; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009898:Optic Disk / Q000002:abnormalities / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities* / Q000473:pathology; D051762:PAX2 Transcription Factor / Q000235:genetics*; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome; D041623:Tomography, Optical Coherence
D018389:Codon, Nonsense; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human