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Abstract #53528 Published in IGR 15-2
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Peter NM; Leyland M; Mudhar HS; Lowndes J; Owen KR; Stewart HClinical and Experimental Ophthalmology 2013; 41: 835-841
BACKGROUND: We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6 mutation. DESIGN: Case series. PARTICIPANTS: Fourteen family members - 8 affected, 6 unaffected controls. METHODS: Affected members underwent ophthalmological assessment, including best-corrected visual acuity, slit-lamp-examination, pachymetry, endothelial cell-count, tonometry and dilated fundoscopy. All subjects underwent anthropometry and assessment of glycaemic status. Unaffected controls also underwent an identical examination. Genetic analysis of the PAX6 gene was performed. MAIN OUTCOME MEASURES: Presence of ptosis, corneal, iris and lenticular changes, gycaemic and PAX6 status. RESULTS: All eight affected subjects had ptosis with reduced levator function, anterior polar cataracts, and corneal changes of variable severity - two patients had undergone penetrating keratoplasties, with graft histology revealing conjunctival cells on the cornea and severe fibroinflammatory change. Five patients had iris hypoplasia. One patient had aphakic glaucoma and another had hypoplastic optic discs. Four of the six controls had no ocular features of this syndrome, and two had isolated mild ptosis. There was no difference in height or BMI between cases and family controls (p>0.05), but HbA1c was greater in the cases (median(IQR) 5.6(0.8) vs 5.1(0.3), p=0.028). Genetic analysis confirmed a pathogenic PAX6 mutation in exon 12 (c1439delC) in all eight patients, but none of the controls. CONCLUSION: This is the first report of this particular constellation of ocular signs occurring in association with a PAX6 mutation. There was no association with anthropometric features, but affected subjects had worse glycaemia than controls, which may be related to the known role of PAX6 in development of the pancreas.
Dept. of Ophthalmology, Royal Berkshire Hospital, Reading, UK; Oxford Eye Hospital, The John Radcliffe Hospital, Oxford, UK.
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)