Vittoria Aragno1, Pierre Zeboulon, Christophe Baudouin, Antoine Labbé. 1. *Department of Ophthalmology III, Quinze-Vingts National Ophthalmology Hospital, DHU Sight Restore †Center for Clinical Investigations, Quinze-Vingts National Ophthalmology Hospital, INSERM-DHOS CIC 1423 ‡INSERM, U968 §Sorbonne Universités, UPMC University Paris 06, UMR_S 968, Institut de la Vision ∥CNRS, UMR_7210, Paris ¶Department of Ophthalmology, Ambroise Paré Hospital, APHP, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
Abstract
PURPOSE: To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). PATIENTS AND METHODS: A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. RESULTS: Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. CONCLUSIONS: We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.
PURPOSE: To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). PATIENTS AND METHODS: A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. RESULTS: Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. CONCLUSIONS: We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.
Authors: Carly van der Heide; Wes Goar; Kacie J Meyer; Wallace L M Alward; Erin A Boese; Nathan C Sears; Ben R Roos; Young H Kwon; Adam P DeLuca; Owen M Siggs; Claudia Gonzaga-Jauregui; Val C Sheffield; Kai Wang; Edwin M Stone; Robert F Mullins; Michael G Anderson; Bao Jian Fan; Robert Ritch; Jamie E Craig; Janey L Wiggs; Todd E Scheetz; John H Fingert Journal: BMC Genomics Date: 2021-06-26 Impact factor: 4.547