South Clin Ist Euras. 2019; 30(3): 232-237 | DOI: 10.14744/scie.2019.05945

Analyzing Ocular and Systemic Findings of Patients with Down Syndrome

Ayþin Tuba Kaplan, Ayse Yesim Oral, Nilufer Zorlutuna Kaymak, Mehmet Can Özen, Þaban Þimþek
Department of Opthalmology, Dr. Lütfi Kýrdar Kartal Training and Research Hospital, Kartal, Ýstanbul, Turkey

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.

Keywords: Brushfield spot, Down syndrome; ocular findings.

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Down Sendromlu Hastalarýn Göz ve Eþlik Eden Sistemik Bulgularýnýn Ýncelenmesi

Ayþin Tuba Kaplan, Ayse Yesim Oral, Nilufer Zorlutuna Kaymak, Mehmet Can Özen, Þaban Þimþek
Dr. Lütfi Kýrdar Kartal Eðitim ve Araþtýrma Hastanesi, Göz Hastalýklarý Servisi, Kartal, Ýstanbul

GÝRÝÞ ve AMAÇ: Kliniðimize baþvuran Down sendromlu hastalarýn göz ve eþlik eden diðer klinik bulgularýný incelemeyi amaçladýk.
YÖNTEM ve GEREÇLER: Çalýþmamýza, yaþlarý 4 ay ile 22 yaþ (ort. 5.5±5.1) arasýnda deðiþen 72 olgu dahil edildi. Tüm olgularýn genetik analizi yapýlmýþ olup Down sendromu tanýsý almýþlardý. Göz muayeneleri dýþýnda olgularýn eþlik eden sistemik bulgularý da bilgisayar kayýtlarýndan ve gerekli hallerde ailelerinden bilgi alýnarak elde edildi. Olgulara görme keskinliði ölçümü, biyomikroskopi, fundus muayenesi, sikloplejik refraksiyon muayenesi ve gereken olgularda floresein boya kaybolma testi yapýldý.
BULGULAR: Çalýþmaya dahil edilen 72 olgunun 48’i (%67) erkek, 24’ü (%33) kýz idi. Kromozom analizlerinde, 69 olguda (%96) regüler trizomi, 2 olguda (%3) mozaik, 1 olguda (%1.4) ise translokasyon paterni tespit edildi. Olgularýn göz muayenelerinde; refraksiyon kusuru (%85), yukarý kapak eðimi (%68), epikantus (%63), þaþýlýk (%33), blefarit (%22), retina anomalileri (%19), katarakt (%19), nazolakrimal kanal týkanýklýðý (%17), Brushfield lekesi (%17), kapak gevþekliði (%11), nistagmus (%4) ve keratokonus (%3) tespit edilirken; sistemik hastalýk olarak konjenital kalp hastalýðý (%36), hipotroidizm (%31), geliþme geriliði (%7), iþitme azlýðý (%6), inmemiþ testis (%4), astým (%4), Hirschsprung hastalýðý (%1.4) ve otizm (%1.4) saptandý. Olgularýn 11’inde (%15) hiçbir göz patolojisine rastlanýlmadýðý gibi, 13 olguda (%19) sistemik hastalýða rastlanmadý. En sýk astigmatizma (%68) tespit edilirken bunu sýrasýyla hipermetropi (%47) ve miyopi (%19) izledi. Konjenital kalp hastalýklarýndan ise en sýk septum defektleri (%33) tespit edildi.
TARTIÞMA ve SONUÇ: Down sendromlu olgularda göz problemleri ve sistemik hastalýklar sýk görülmektedir. Erken dönemde yapýlacak doðru taný ve tedavi ile hastalarýn eðitim hayatýna ve sosyal hayata uyumu daha kolay olacaktýr.

Anahtar Kelimeler: Brushfield lekesi, Down sendromu; göz bulgularý.

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