PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

[aniridia]

We report a family with ptosis , cataract , iris hypoplasia and gradual corneal opacification occurring in association with a PAX 6 mutation .Case-series .Fourteen family members - 8 affected , 6 unaffected controls .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 PAX 6 gene was performed .Presence of ptosis , corneal , iris and lenticular changes , gycaemic and PAX 6 status .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 (p > 0 .05 ), but Haemoglobin A 1 c was greater in the cases (median [interquartile range ] 5 .6 (0 .8 ) vs 5 .1 (0 .3 ), p = 0 .028 ). Genetic analysis confirmed a pathogenic PAX 6 mutation in exon 12 (c 1439 delC ) in all eight patients , but none of the controls .This is the first report of this particular constellation of ocular signs occurring in association with a PAX 6 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 PAX 6 in development of the pancreas .

Diseases
Validation

Diseases presenting "ocular signs" symptom

alexander disease

aniridia

dentin dysplasia

kindler syndrome

triple a syndrome

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