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Abstract #26753 Published in IGR 12-3
Clinical characterization and proposed mechanism of juvenile glaucomaA patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome
Curtin J; Moloney G; Grigg J; Sharota Franzco DOphthalmic Genetics 2010; 31: 135-138
The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first case of juvenile onset glaucoma in this syndrome. Our patient had narrow angles on gonioscopy, with ultrasound biomicroscopy revealing ciliary body cysts. We alert others to the possibility of this mechanism of secondary narrow angle glaucoma associated with this chromosomal deletion syndrome.
J. Curtin. 69 Dalton St, Orange, 2800, Australia. jeremydcurtin@gmail.com
Classification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
