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  • Title: Iridogoniodysgenesis syndrome: a case report.
    Author: Knezević T, Novak-Laus K, Skunca J, Mandić Z.
    Journal: Acta Clin Croat; 2008 Sep; 47(3):161-4. PubMed ID: 19175065.
    Abstract:
    A rare case is presented of iridogoniodysgenesis syndrome, an autosomal dominant inheritance disorder that includes abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure, which at long run increases the risk of glaucomatous optic neuropathy. The syndrome is diagnosed when ocular changes are accompanied by extraocular structure anomalies such as maxillary hypoplasia, micro- and anodontia, redundant periumbilical skin, inguinal hernia and hypospadias (males). A 44-year-old male patient presented for treatment of retinal detachment on his left eye. Cataract surgery and pars plana vitrectomy with endolaser were done. Due to his vision loss, high intraocular pressure values bilaterally and positive family history of glaucoma, he was rehospitalized for complete glaucomatous diagnostic evaluation. The rare iridogoniodysgenesis syndrome and associated juvenile glaucoma were verified in the patient by positive family history of glaucoma, slit lamp iris hypoplasia and mild pupillary deformities, gonioscopic results of open angle with iridotrabecular synechiae and neovascularizations at the iris root and ciliary body, fundus examination showing optic disk changes with a cup to disk ratio of 0.9 and 0.8 for the right and left eye, respectively, visual field dG2 program abnormalities such as absolute scotomata within 30 degrees on both eyes, and finally optical coherent tomography results of the cup to disk area ratio of 0.9 and 0.8 for the right and left eye, respectively, with average thickness of the retinal nerve fiber layer of 51 mm and 72 mm for the right and left eye, respectively. Disease control was achieved with medicamentous therapy; however, continuous follow up of the patient is a priority to prevent the potential glaucomatous damage.
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