Analyzing Ocular and Systemic Findings of Patients with Down Syndrome

• Published in: Southern Clinics of Istanbul Eurasia Vol. 30; no. 3; pp. 232 - 237
• Main Authors: Ayşin Tuba Kaplan, Ayse Yesim Oral, Nilufer Zorlutuna Kaymak, Mehmet Can Özen, Şaban Şimşek
• Format: Journal Article
• Language: English
• Published: KARE Publishing 01.09.2019
• Subjects: brushfield spot; down syndrome; ocular findings
• ISSN: 2587-0998
• DOI: 10.14744/scie.2019.05945

INTRODUCTION[|]The aim of this study was to analyze the ocular and clinical findings of patients with Down syndrome.[¤]METHODS[|]A total of 72 patients, aged between 4 months and 22 years (mean: 5.5+-5.1 years), were included in the study. All of the patients had been genetically analyzed and diagnosed with Down syndrome. The results of eye examinations and the accompanying systemic findings of the patients were obtained from computer records and the families. A visual acuity assessment, biomicroscopy, fundus examination, cycloplegic refraction, and in required cases, a fluorescein dye disappearance test, were performed.[¤]RESULTS[|]Of the 72 patients, 48 (67%) were male and 24 (33%) were female. Chromosome analysis revealed regular trisomy in 69 patients (96%), a genetic mosaic in 2 patients (3%), and a translocation pattern in 1 patient (1.4%). The results of the eye examination of patients revealed refractive errors (85%), upward slanting of the palpebral fissures (68%), epicanthus (63%), strabismus (33%), blepharitis (22%), retinal pathologies (19%), cataract (19%), nasolacrimal duct obstruction (17%), Brushfield spots (17%), eyelid laxity (11%), nystagmus (4%), and keratoconus (3%). The systemic findings identified were congenital heart disease (36%), hypothyroidism (31%), growth retardation (7%), hearing loss (6%), undescended testis (4%), asthma (4%), Hirschsprung's disease (1.4%), and autism (1.4%). No refractive error was observed in 11 patients (15%), and no systemic disease was seen in 13 patients (19%). Astigmatism was the most frequent finding (68%), followed by hyperopia (47%) and myopia (19%). The most common congenital heart disease was a septum defect (33%).[¤]DISCUSSION AND CONCLUSION[|]Ocular problems and systemic diseases are more common in patients with Down syndrome. Early diagnosis and treatment will make it easier for patients to adapt to all aspects of life.[¤]