PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?. (3rd May 2013)

• Record Type: Journal Article
• Authors: Peter, Neena M; Leyland, Martin; Mudhar, Hardeep S; Lowndes, Jo; Owen, Katharine R; Stewart, Helen
• Is Part Of: Clinical & experimental ophthalmology. Volume 41:Number 9(2013)
• Page Start: 835
• Page End: 841
• Publication Date: 2013-05-03
• Subjects: Ophthalmology -- Periodicals; 617.7
• DOI: 10.1111/ceo.12109
• Languages: English
• ISSNs: 1442-6404

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="ceo12109-sec-0001" sec-type="section"> <title>Background</title> <p>We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a <italic>PAX6</italic> mutation.</p> </sec> <sec id="ceo12109-sec-0002" sec-type="section"> <title>Design</title> <p>Case‐series.</p> </sec> <sec id="ceo12109-sec-0003" sec-type="section"> <title>Participants</title> <p>Fourteen family members – 8 affected, 6 unaffected controls.</p> </sec> <sec id="ceo12109-sec-0004" sec-type="section"> <title>Methods</title> <p>All participants 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. Genetic analysis of the <italic>PAX6</italic> gene was performed.</p> </sec> <sec id="ceo12109-sec-0005" sec-type="section"> <title>Main Outcome Measures</title> <p>Presence of ptosis, corneal, iris and lenticular changes, gycaemic and <italic>PAX6</italic> status.</p> </sec> <sec id="ceo12109-sec-0006" sec-type="section"> <title>Results</title> <p>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 body mass index between cases and family controls (<italic>p</italic> > 0.05), but Haemoglobin A1c was greater in the cases (median [interquartile range] 5.6(0.8) vs 5.1(0.3), <italic>p</italic> = 0.028). Genetic analysis confirmed a pathogenic <italic>PAX6</italic> mutation in exon 12 (c1439delC) in all eight patients, but none of the controls.</p> </sec> <sec id="ceo12109-sec-0007" sec-type="section"> <title>Conclusion</title> <p>This is the first report of this particular constellation of ocular signs occurring in association with a <italic>PAX6</italic> 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 <italic>PAX6</italic> in development of the pancreas.</p> </sec> </abstract>