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Elisabeth P. Aponte, Rahul Bhola, John Randolph, Paul Rychwalski; Clinical Characteristics and Visual Outcome in Aniridia. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1586.
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To describe the range of clinical characteristics and visual outcome in patients with aniridia seen at Cleveland Clinic, Ohio and University of Louisville Kentucky.
The medical records of all patients with aniridia seen at Cleveland Clinic, Ohio and University of Louisville, Kentucky were reviewed. Clinical characteristics such as optic nerve or foveal hypoplasia, glaucoma, lens opacity, corneal abnormality, nystagmus, genetic analysis and surgical procedures were recorded.
Thirty-seven patients were diagnosed with aniridia, including 17 from University of Louisville, Kentucky and twenty from Cleveland Clinic,Ohio from 1978 to 2010. Sixteen of these 37 patients were diagnosed within the first year of life. At the final follow-up, 17 patients had visual acuity 20/200 or worse in one eye, including 2 with LP, 2NLP and 1 hand motion. Twenty-eight patients had foveal hypoplasia while 15 had optic nerve hypoplasia. Twenty-eight patients were also found to have nystagmus. Lens pathology was found in 23 of the 37 patients and included anterior polar cataract in 8 patients, posterior subcapsular cataract in 7, cortical sclerosis in 4, subluxation in 3 and dislocation in 1 patient. Six of these patients underwent cataract extraction or lensectomy. Eleven of the 37 patients developed glaucoma or ocular hypertension with final intraocular pressure ranging from 13 to 59 mmHg. Ten patients were placed on IOP-reducing medications while 5 patients underwent glaucoma surgery. Nineteen patients had corneal abnormalities including 12 with pannus, 2 with microcornea, 1 with band keratopathy, 2 with corneal scars and 1 with corneal haze. Keratectomy was performed in one patient while another had 11 failed grafts. Four patients had retinal detachments among which 2 were bilateral. Pars plana vitrectomy and scleral buckle were performed in 2 patients while another received cryotherapy. WAGR syndrome was found in 3 of the 20 Cleveland Clinic aniridia patients.
Nystagmus, foveal hypoplasia and lens pathology were found in the majority of the patients while optic nerve hypoplasia was found in 40% of our patients. Aniridia was associated with poor visual prognosis. Our study describes the high frequency, severity and diversity of ocular pathology in patients with aniridia. This underscores the variable ocular structures affected by the PAX 6 gene and the need for frequent surveillance, especially in children.
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