DOI: 10.14744/scie.2019.05945 Original Article South. Clin. Ist. Euras. 2019;30(3):232-237 Analyzing Ocular and Systemic Findings of Patients with Down Syndrome Ayşin Tuba Kaplan, Ayse Yesim Oral, Nilufer Zorlutuna Kaymak, Mehmet Can Özen, Şaban Şimşek ABSTRACT Objective: 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 Department of Opthalmology, Dr. Lütfi Kırdar Kartal Training and years), were included in the study. All of the patients had been genetically analyzed and Research Hospital, Kartal, diagnosed with Down syndrome. The results of eye examinations and the accompanying İstanbul, Turkey systemic findings of the patients were obtained from computer records and the families. A Submitted: 18.02.2019 visual acuity assessment, biomicroscopy, fundus examination, cycloplegic refraction, and in Accepted: 27.05.2019 required cases, a fluorescein dye disappearance test, were performed. Correspondence: Results: Of the 72 patients, 48 (67%) were male and 24 (33%) were female. Chromosome Ayşin Tuba Kaplan, analysis revealed regular trisomy in 69 patients (96%), a genetic mosaic in 2 patients (3%), Dr. Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi, Göz and a translocation pattern in 1 patient (1.4%). The results of the eye examination of patients Hastalıkları Servisi, İstanbul, Turkey revealed refractive errors (85%), upward slanting of the palpebral fissures (68%), epicanthus E-mail: [email protected] (63%), strabismus (33%), blepharitis (22%), retinal pathologies (19%), cataract (19%), naso- lacrimal 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 Keywords: Brushfield spot; observed in 11 patients (15%), and no systemic disease was seen in 13 patients (19%). Astig- Down syndrome; ocular matism was the most frequent finding (68%), followed by hyperopia (47%) and myopia (19%). findings. The most common congenital heart disease was a septum defect (33%). 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 This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. all aspects of life. INTRODUCTION was found to be normal and 47 chromosomes were de- tected due to “non-disjunction” during gametogenesis, in Trisomy 21, also known as Down syndrome, was first de- translocation Down syndrome, in addition to two copies scribed by Edouard Onesimus Seguin in 1846, but was first Chromosome 21 that are free, there is a third copy of introduced to the literature with written data in 1866 by chromosome 21 that is translocated to chromosome 14, John Langdon.[1] The incidence is 1:750–1000 in neonates. 21 and rarely 22. In the mosaic type, normal and trisomic , and it is the most common chromosomal disease in hu- cell lines coexist as a result of post-zygotic division error, mans.[2] Its main features include typical facial and head but the clinical picture is usually similar.[4] appearance (cranio-facial dysmorphism), varying degrees Ocular findings of patients with Down syndrome are di- of mental retardation, hypothyroidism, congenital heart verse and these findings are not diagnostic. They can be defects, gastrointestinal (GIS) problems, ocular anomalies, also seen rarely in normal individuals or in patients with hearing impairment, and immunodeficiency. other mental and physical defects. Pathologies such as Chromosome analysis of Down syndrome cases revealed epicanthus, upward slanting palpebral fissures, eyelid lax- complete trisomy 21 resulting from meiotic “non-disjunc- ity, iris and retinal anomalies can be seen in these cases, tion” with a rate of 95%, 4% translocation and 1% mo- as well as refractive errors, cataract, strabismus, lacrimal saicism.[3] While the somatic cell chromosome structure drainage problems, keratoconus, nystagmus and amblyopia of the parents of the patients with complete trisomy 21 that may cause serious problems. The nature of the anom- Kaplan. Analyzing Ocular Findings of Down Syndrome 233 alies in Down syndrome cases indicates that the globe is All cases received 1% cycloplegine drop (1% cyclopento- affected in the late stage of embryological development. late hydrochloride) for refraction and fundus examination. While some of the findings are present at birth, some of A history of epiphora and/or fluorescein dye disappear- them appear as the child grows up.[5] ance test revealed nasolacrimal duct obstruction. Although congenital heart defects are the most common systemic diseases, hypothyroidism, GIS anomalies, hearing RESULTS problems, neuromuscular disorders, musculoskeletal dis- orders and immunological disorders are also common. A total of 72 Down syndrome patients (48 male and 24 fe- male), aged between 4 months and 22 years (mean 5.5±5.1 Although Down Syndrome cases can be easily recognized years) were included in the study. Chromosome analysis re- by their phenotypic features, related systemic diseases and vealed trisomy 21 in 69 patients (96%), mosaic in 2 patients ocular findings, there are various clinical variations among (3%) and translocation pattern in 1 patient (1.4%) (Table 1). patients. Therefore, we aimed to investigate the ocular The most common ocular problem was refractive error and associated systemic findings of patients with Down (85%). Forty-nine patients (68%) had astigmatism, 34 pa- syndrome admitted to our clinic. tients (47%) had hyperopia, 14 patients (19%) had myopia, while 13 patients (18%) had anisometropia. Eleven (15%) MATERIALS AND METHODS cases had no refractive errors. A total of 72 patients with Down syndrome who were When the eyelid problems were evaluated; upward eyelid examined in the outpatient clinic between January 2016 slanting was found in 49 cases in 45 (63%), blepharitis in and March 2018 were included in the study. Chromoso- 16 (22%), eyelid laxity in 8 (11%) and bilateral upper eyelid mal analysis of all cases was obtained by short-term cell ectropion in 1 case. Nasolacrimal duct obstruction was cultures of lymphocytes in genetic diagnosis centers and present in 12 cases (17%). patients had definitive diagnosis as Down syndrome. In Strabismus was detected in 24 (33%) patients, 20 (83%) of addition to eye examinations, the systemic findings of the them had esotropia and 4 (17%) had exotropia. No vertical patients were obtained from computer records and, if nec- deviation was detected in any of our patients. Nystagmus essary, from their families, and by requesting a pediatric was detected in 3 cases (4%), all of whom were operated and cardiology consultation. Visual acuity examination, for bilateral white cataracts. Nystagmus was horizontal in cycloplegic refraction, biomicroscopy and fundus examina- 2 cases and rotary in 1 case. tion were performed, and when necessary, fluorescein dye Cataract was detected in 14 cases (19%). Four cases (29%) disappearance test was performed in all patients. had sutural cataract, 4 cases (29%) had blue dot cataract, Visual acuity was measured with Snellen chart according 3 cases (21%) had bilateral white mature cataract and 3 to age and compliance of the cases. Refractive errors were cases (21%) had posterior polar cataract. calculated by taking cycloplegic spherical equivalent into Iris anomalies was present in 17 cases (24%). Of these, 12 account. The difference between refractive error of 1.0 (71%) had Brushfield spots, 4 (23%) had stromal hypopla- diopters (D) and above between the two eyes was consid- sia, and 1 (6%) had iris coloboma. Only 2 patients (3%) had ered as anisometropia, and values out of -1.0 D and +2.0 keratoconus as a corneal pathology. D range were considered as ametropia. Cylindrical values of one diopter and above were accepted as astigmatism. Retinal and optic nerve changes were detected in 14 cases (19%). Increased retinal pigmentation was present The features of palpebral fissure, presence of eyelid in 7 cases (50%), peripapillary atrophy in 2 cases (14%), pathologies such as epicanthus and eyelid laxity were in- blurring of the optic nerve margins and increased vascular vestigated. 2 mm or more upward and outward incilina- tortuosity in 2 cases (14%), car wheel image made by the tion of lateral canthal angle from the medial canthal angle; vessels originating from the optic nerve in 1 case (7%), was considered as ‘upward slanting palpebral fissure’. The degenerative myopia findings in 1 case (7%) and choroid term eyelid laxity is used for eyelids that spontaneously coloboma in 1 case (7%) (Table 2). show eversion backward when the child cries or when the lid is opened for examination. Table 1. Characteristics of Down syndrome cases Eyelids, conjunctiva, cornea, iris and lens examinations were performed by biomicroscopy in compatible patients. Gender Total % Incompatible patients were examined macroscopically with the aid of light source or indirect ophthalmoscope. Female 48 67 The presence of strabismus was examined in primary Male 24 33 position with Hirschberg and/or cover-uncover test, and Karyotypr the angle of deviation, if any, was determined by Krimsky Regular Type 69 96 or prism cover test.