SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. Issue Volume 14:Issues 1(2020) (2020)

• Record Type: Journal Article
• Authors: Sels, Lise; Dirven, Werner; Devriendt, Koenraad; Leys, Anita
• Is Part Of: Retinal cases & brief reports. Volume 14:Issues 1(2020)
• Publication Date: 2020
• Subjects: papillorenal syndrome -- PAX2 transcription factor -- renal coloboma syndrome -- renal hypoplasia; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000625
• Languages: English
• ISSNs: 1935-1089

Abstract

Abstract : Purpose: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. Methods: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain. Results: Presentation with severe bilateral posterior eye defects, optic nerve aplasia and a retrobulbar cyst in the left eye, renal abnormalities, and mental retardation. Over time, a progressive axial myopia in the right eye, band keratopathy in the left eye, and progressive bilateral posterior lens opacities were noted. There was only a minor decrease in visual acuity and visual field of the only functional right eye. The mother of this patient had a mild optic disk hypoplasia, progressive lens opacities, and late-onset renal disease. Both had a confirmed mutation in exon 2 of the PAX2 gene. Conclusion: This first published long-term follow-up of renal coloboma syndrome shows progressive posterior lens opacities, axial myopia, and band keratopathy with only a small decline in visual function over time. Abstract : Renal coloboma syndrome is a rare autosomal dominant disorder characterized by renal hypodysplasia and optic nerve abnormalities, caused by heterozygous mutations in the PAX2 gene. This first published long-term follow-up of renal coloboma syndrome shows progressive lens opacities, myopia, and band keratopathy with little deterioration in visual function over time.