SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
Journal
Retinal cases & brief reports
ISSN: 1937-1578
Titre abrégé: Retin Cases Brief Rep
Pays: United States
ID NLM: 101298744
Informations de publication
Date de publication:
2020
2020
Historique:
pubmed:
19
8
2017
medline:
21
8
2020
entrez:
19
8
2017
Statut:
ppublish
Résumé
To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. 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. 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. 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.
Identifiants
pubmed: 28820764
doi: 10.1097/ICB.0000000000000625
pii: 01271216-202001410-00019
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
77-81Références
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