PURPOSE: To determine the prevalence of ocular and systemic abnormalities in a group of subjects with aniridia. METHODS: Survey forms developed by Aniridia Foundation International were sent to all members prior to the 2010 AFI member conference. An additional form was provided for completion by physicians caring for patients. Forms were then collected from all members who attended the meeting. RESULTS: A total of 155 surveys were distributed, of which 83 (53%) were completed. The mean age was 25.4 ± 18.4 years, with 65% sporadic and 35% familial cases, and 2.4% with WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. Ocular abnormalities included nystagmus (83%), cataract (71%), dry eye (53%), glaucoma (46%), keratopathy (45%), foveal hypoplasia (41%), strabismus (31%), and retinal disease (5%). The mean age at diagnosis of aniridia was 22.1 months (median, 1.5 months) and glaucoma was 13.6 years (median, 8.5 years). Of 38 subjects with aniridia and glaucoma, 76% were treated medically, and 58% had been treated surgically. In subjects with glaucoma, the mean number (± SD) of glaucoma medications was 1.8 ± 1.3, and number of surgical procedures was 1.7 ± 2.0. Developmental delay was reported in 17%. The mean body mass index and the prevalence of obesity in subjects with aniridia was significantly greater (P = 0.003) than in siblings without aniridia. CONCLUSIONS: In this study, aniridia was associated with nystagmus and other motility problems, cataract, glaucoma, and keratopathy. Systemic abnormalities included increased average body mass index and obesity, which appeared to occur not only in WAGR syndrome but more broadly in aniridia.
PURPOSE: To determine the prevalence of ocular and systemic abnormalities in a group of subjects with aniridia. METHODS: Survey forms developed by Aniridia Foundation International were sent to all members prior to the 2010 AFI member conference. An additional form was provided for completion by physicians caring for patients. Forms were then collected from all members who attended the meeting. RESULTS: A total of 155 surveys were distributed, of which 83 (53%) were completed. The mean age was 25.4 ± 18.4 years, with 65% sporadic and 35% familial cases, and 2.4% with WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. Ocular abnormalities included nystagmus (83%), cataract (71%), dry eye (53%), glaucoma (46%), keratopathy (45%), foveal hypoplasia (41%), strabismus (31%), and retinal disease (5%). The mean age at diagnosis of aniridia was 22.1 months (median, 1.5 months) and glaucoma was 13.6 years (median, 8.5 years). Of 38 subjects with aniridia and glaucoma, 76% were treated medically, and 58% had been treated surgically. In subjects with glaucoma, the mean number (± SD) of glaucoma medications was 1.8 ± 1.3, and number of surgical procedures was 1.7 ± 2.0. Developmental delay was reported in 17%. The mean body mass index and the prevalence of obesity in subjects with aniridia was significantly greater (P = 0.003) than in siblings without aniridia. CONCLUSIONS: In this study, aniridia was associated with nystagmus and other motility problems, cataract, glaucoma, and keratopathy. Systemic abnormalities included increased average body mass index and obesity, which appeared to occur not only in WAGR syndrome but more broadly in aniridia.
Authors: Takuya Nakayama; Marilyn Fisher; Keisuke Nakajima; Akinleye O Odeleye; Keith B Zimmerman; Margaret B Fish; Yoshio Yaoita; Jena L Chojnowski; James D Lauderdale; Peter A Netland; Robert M Grainger Journal: Dev Biol Date: 2015-02-25 Impact factor: 3.582
Authors: James D Cole; Kara M McHaney; Behnam Rabiee; Jingyi Gao; Carlos Rodriguez; David A Miller; Mingna Liu; Marta Grannonico; Pedro Norat; Hao F Zhang; Ali R Djalilian; Xiaorong Liu Journal: Exp Eye Res Date: 2022-03-01 Impact factor: 3.770
Authors: Meriel McEntagart; Kathleen A Williamson; Jacqueline K Rainger; Ann Wheeler; Anne Seawright; Elfride De Baere; Hannah Verdin; L Therese Bergendahl; Alan Quigley; Joe Rainger; Abhijit Dixit; Ajoy Sarkar; Eduardo López Laso; Rocio Sanchez-Carpintero; Jesus Barrio; Pierre Bitoun; Trine Prescott; Ruth Riise; Shane McKee; Jackie Cook; Lisa McKie; Berten Ceulemans; Françoise Meire; I Karen Temple; Fabienne Prieur; Jonathan Williams; Penny Clouston; Andrea H Németh; Siddharth Banka; Hemant Bengani; Mark Handley; Elisabeth Freyer; Allyson Ross; Veronica van Heyningen; Joseph A Marsh; Frances Elmslie; David R FitzPatrick Journal: Am J Hum Genet Date: 2016-04-21 Impact factor: 11.025
Authors: Ximena Corso-Díaz; Adrienne E Borrie; Russell Bonaguro; Johanna M Schuetz; Thomas Rosenberg; Hanne Jensen; Brian P Brooks; Ian M Macdonald; Francesca Pasutto; Michael A Walter; Karen Grønskov; Angela Brooks-Wilson; Elizabeth M Simpson Journal: Mol Vis Date: 2012-11-22 Impact factor: 2.367