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Ocular Manifestations in Down’s Syndrome

Nanda L1, Adarsh2, V.K. Srivastava3, Nithisha T M4, Shivakumar M5, Garima Yadav6

2015). The study subjects includes all the patients diagnosed

ABSTRACT with Down Syndrome during the period of study with age
Introduction: Down syndrome is also known as trisomy 21. between 1 year to fourteen years and patients below the age
It is a genetic disorder caused by presence of all or part of 3rd of 1year and above age of 14 years were excluded from the
copy of chromosome 21. It is typically associated with delay study. Total sixty four patients were examined. Informed
in physical growth, characteristic facial features and mild to consent from patient’s attendees was taken and ethical clear-
moderate intellectual disability. The parents are genetically ance from the ethical committee was obtained. Clinical ex-
normal and the extra chromosome occurs by chance. Ocular amination of the eye included visual assessment with cylo-
abnormalities like cataract, strabismus, and refractive errors
plegic refraction, ocular motility, ocular adenexa, slit lamp
are common. The aim of the present study was to report clin-
ically significant ophthalmic abnormalities in children with
examination, fundus examination, glaucoma evaluation and
Down’s syndrome. systemic examination.
Material and methods: A prospective study was done in six- A clinical history was obtained from parents regarding pa-
ty four children with Down syndrome between the age group tients age, maternal age of conception, history of wearing
1 year to 14 years. All children underwent ocular examination glasses, onset of strabismus and/ or nystagmus, occlusion
which included visual examination, slit lamp examination and therapy for amblyopia, previous external infections, wa-
fundus examination. tering, photophobia, treatment modalities, previous history
Results: Sixty four patients with Down syndrome (mean age, cataract or strabismus surgery inquired. All details about
8 years; range, 1year 6months to 14 years) underwent eye ex- previous cardio-vascular surgery any complications related
aminations. Clinically significant refractive errors were pres- to Pulmonary, endocrine, GI examination, neurological ex-
ent in 32% of the subjects, strabismus in 32%, nystagmus in
aminations were inquired.
3%, and cataract in 7%.Six year and younger patients showed
a higher prevalence of hyperopia than those who are in older
The visual acuity was evaluated according to the patient’s
age groups; pts between 6-10 years old had a higher preva- intelligence and responsiveness. In a non verbal patient vi-
lence of astigmatism. sion is evaluated in terms of location (eccentric or central
Conclusion: This study shows early detection of ocular ab- fixation) and duration. In verbal patients it is tested using op-
normalities in children with Down syndrome has greater im- totypes (snellens chart, tumbling E chart, Tellen cards) few
portance in reducing visual abnormalities. were tested with pattern vep.3,4 Palpebral fissure was meas-
ured with the help of a straight ruler which was placed over
Keywords: Refractive error, strabismus, cataract, visual acui- the bridge of nose at the level of inner and outer canthus.
ty, retinal abnormalities Horizontal and vertical displacement was measured.
The lid margins and conjunctiva were assessed for abnormal-
ities such as blepharitis, hordeola, chalzion and conjunctivi-
INTRODUCTION tis and some pts may have nasolacrimal duct obstruction.5,6
Down’s syndrome is the most common genetic chromosom- The diagnosis of nasolacrimal duct obstruction was based
al disorder of chromosome 21(trisomy 21) and is associated on history of epiphora or recurrent mucopurulent discharge
with significant ocular morbidity. It varies in severity, caus- since infancy and by the reflux of mucus with pressure over
es lifelong intellectual disability and developmental delays. lacrimal sac. The presence of keratoconus, keratoglobus
Most common features are flattened facial features, small and iris abnormalities such as Brushfield’s spots and stro-
head, short neck, protruded tongue, upward slanting eyes, mal hypoplasia was also evaluated.7 Lens was evaluated for
small eyes, poor muscle tone, broad short hand with single developmental or congenital cataract. Cycloplegic refraction
crease in the palm. The abdomen is often protuberant and was performed in all patients, regardless of age, 45 min after
cardiac malformations are common. Ocular findings include three to five instillations of one drop of cyclopentolate1%.
strabismus, cataract, refractive errors, accommodative insuf- Emmetropia was defined as refractive error between -0.75
ficiency, blephritis, retinal abnormalities, epicanthal folds.1,2 diopter (D) and +0.75 D spherical equivalent.8,9 Hyperopia
Most reported studies of ocular findings in Down syndrome
have been performed in Caucasians.2,3 In the present study, 1
Senior Resident, 3Professor and HOD, 4Associate Professor, 5Pro-
our aim was to study the patients with Down syndrome to fessor, 6Junior Resident, Department of Ophthalmology, 2Professor
identify the characteristic ocular findings and to find the and HOD , Department of Paediatrics, RRMCH, India
prevalence rate.
Corresponding author: Garima Yadav, Junior Resident, Depart-
MATERIAL AND METHODS ment of Ophthalmology, RRMCH, India
The study was done in the department of ophthalmology How to cite this article: Nanda L, Adarsh, V.K. Srivastava, Nith-
and in coordination with department of pediatrics, RRMCH isha T M, Shivakumar M, Garima Yadav. Ocular manifestations in
Bangalore. It was a cross sectional study conducted for the down’s syndrome. International Journal of Contemporary Medical
duration of 1 year 6 months (January 2014 to September Research 2016;3(5):1332-1335.

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International Journal of Contemporary Medical Research
Volume 3 | Issue 5 | May 2016 | ICV: 50.43 | ISSN (Online): 2393-915X; (Print): 2454-7379
Nanda L, et al. Ocular Manifestations in Down’s Syndrome

was defined as more than +0.75 D spherical equivalent and zontal-pendular type (table-1). Six year and younger patients
myopia was defined as less than -0.75 D spherical equiva- showed a higher prevalence of hyperopia than those who
lent. Astigmatism was defined as refractive error more than are in older age groups; patients between 6-10 years old had
+- 0.75 of the cylinder.10,11 a higher prevalence of astigmatism. Patients older than 10
Direct and indirect ophthalmoscopy after cycloplegic reti- years had more cataract, strabismus, iris abnormalities. My-
noscopy was used to examine the retina, choroid and optic opia is more common in patients with cardiac abnormalities.
disc, and included a full assessment of vessels in relation to Patients develop amblyopia due to strabismus and refractive
optic disc. error. Brushfield spots and keratoconus were not found.
We observed that majority of the patients had upward slant-
STATISTICAL ANALYSIS
ing of the palpebral fissure. On examining the fundus it
Data was analyzed using SPSS version 19. Results are based showed numerous vessels >18 crossing the optic disc mar-
on descriptive statistics. gin and extending towards retinal periphery. In one patient
RESULTS retinal pigment epithelium showed focal hyperplasia. In the
bar chart below incidence of ocular abnormality in Down
Sixty four patients with Down syndrome (mean age, 8 years; syndrome is shown (figure-1)
range, 1year 6months to 14 years) underwent eye examina-
tions. Clinically significant refractive errors were present in DISSCUSSION
32% of the subjects, accommodative insufficiency in 34%, The incidence of strabismus in our study was 32% which is
nystagmus in 3%, and cataract in 7%, retinal abnormality in similar to that in other studies from da Cunha and Moreira
10%, epicanthal folds in 90%, lacrimal system obstruction (38%)12 or Lowe (33%)13 or Hiles et al (34%).14 Asians are
in 12%, blephritis in 18%, iris abnormalities in 12%, up- shown to have higher prevalence of exotropia as compared to
ward slanting of palpebral fissure with outer canthus in 93%. Caucasians.15 Racial factors may play a role in this striking-
Strabismus was present in 21 patients (32%), 14 of whom ly high incidence. Upward slanting of palpebral fissure, the
had esodeviations and 7 of whom had exodeviations. Nys- most frequent ocular finding, is present in 60 patients(93%).
tagmus was observed in 2 patients (3%), usually in the hori- Epicanthal folds, the second most prevalent feature, were
found in 58 patients (90%).The prevalence of these two ab-
Ocular abnormality
normalities has been reported as low as 9% and as high as
70
Total No of Patients 100%. This variation might be related to age and racial fac-
60 tors. Several authors have reported a decrease in prevalence
50 with increased age as shown in table 2.
40 Nystagmus was present in 2 patients (3%), which is in ac-
30 cordance with previous reports of 4-30%.The patients hav-
20 ing nystagmus in the present study usually had refractive
10 errors, which are in accordance with other studies reporting
0
nystagmus associated with refractive errors.16 The incidence
of cataract (7%) was similar to that in the studies done by
Shapiro and France (7%)16 and Roizen et al (5%)17, but quite
lower than 11-86% of other reports by Berk et al (11%)18 and
da Cunha and Moreira (20%).12 This varying incidence rate
might be related to the differences in age distribution and
diagnostic criteria.
The incidence of keratoconus varies between 0 and 30%. But
Figure-1: Incidence of ocular abnormality in Down syndrome

Sr. Ocular Abnormality Sample Positive %age

No. Size Findings
1 Upward slanting of palpebral fissure with outer canthus 2mm or higher than inner canthus 64 60 93.75%
2 Epicanthal Folds 64 58 90.63%
3 Astigmatism 64 22 34.38%
4 Iris abnormalities 64 8 12.50%
5 Strabismus 64 21 32.81%
6 Lacrimal System Obstruction 64 8 12.50%
7 Blephritis 64 12 18.75%
8 Retinal Abnormality 64 7 10.94%
9 Nystagmus 64 2 3.13%
10 Cataract 64 5 7.81%
11 Hyperopia 64 8 12.50%
12 Myopia 64 5 7.81%
13 Amblyopia 64 8 12.50%
Table-1: This table shows ocular abnormality with prevalence rate

International Journal of Contemporary Medical Research 1333

ISSN (Online): 2393-915X; (Print): 2454-7379 | ICV: 50.43 | Volume 3 | Issue 5 | May 2016
Nanda L, et al. Ocular Manifestations in Down’s Syndrome

Comparison of ocular findings in Present Wong and Da Cunha Berk et al Caputo Shapiro
previous studies with our findings study Ho (1997)19 and Morei- (1996)18 et al and France
ra (1996)12 (1989)20 (1985)16
Number of patients 64 140 152 55 187 53
Nationality Indian Hong Kong Brazil Turkey US US
Range of age (years) 1 yr 6month 0-13 0-18 0-25 0-26 7036
- 14
Mean age ( years) 8 3.74 - 7.2 5.8 17.4
Upward slanting (%) 60(93) 140 125(82) - - 47(89)
Epicanthus (%) 58(90) 140 92(61) 13(24) - -
Refractive errors (%) 35(54) 137(98) 149(98) 60 122(65) 35
Hyperopia 8 42 39 29 39 17
Myopia 5 12 19 7 42 18
Astigmatism 22 8 91 24 41 12
Strabismus (%) 21(32) 28(20) 57(38) 12(22) 107(57) 23(43)
Esotropia 14 51 11 97 22
Exotropia 7 0 1 4
Hypertropia 0 4 0 6
Nystagmus (%) 2(3) 15(11) 28(18) 7(13) 55(29) 5(9)
Nasolacrimal duct obstruction (%) 8(12) - 46(30) 12(22) 9(5) -
Blepharitis (%) 12(18) 8(7) 45(30) 19(35) - 25(47)
Number of retinal vessels >= 18 (%) 6(9) 16 42 21(38) - -
Lens opacities (%) 5(7) 4 20(13) 11(20) 21(11) 7(13)
Focal RPE hyperplasia (%) 1(1.5) - - - - -
Glaucoma (%) 0 1 - - 10(5) -
Corneal opacities (%) 0 - - - - -
Keratoconus (%) 0 0 - - - 8(15)
Brushfield spots (%) 0 0 79(52) 20(36) - 43(81)
Table-2: Comparison of ocular findings in previous studies with our findings

no keratoconus was seen in our study because the median Down Syndrome. J Appl Res Intellect Disabil. 2013.
age was very low. The children might be young so keratoco- 3. Little JA, Woodhouse JM, Lauritzen JS, Saunders KJ.
nus might not have developed but as their age increases the The impact of optical factors on resolution acuity in
chances it might occur. Unlike higher prevalence rate up to children with Down syndrome. Invest Ophthalmol Vis
Sci. 2007;48:3995-4001.
90%, our study showed iris abnormality up to 12.50% and
4. Creavin AL, Brown RD. Ophthalmic abnormalities in
no brushfield spots were seen. This can be explained by dark children with Down syndrome. J Pediatr Ophthalmol
brown and black irises in our children. Wong and Ho19 also Strabismus. 2009;46:76-82.
reported that non of Hong Kong children showed these con- 5. Singh M, Singh U. Bilateral congenital lacrimal fistu-
ditions either. la in Down syndrome. Middle East Afr J Ophthalmol.
As shown above in the results our study results coincide with 2013;20:263-4.
that of other studies done as shown in table 2. 6. Wagner RS. Ocular genetics and Down syndrome. J
Pediatr Ophthalmol Strabismus. 2009;46:75.
CONCLUSION 7. Nandakumar K, Leat SJ. Bifocals in Down Syndrome
Early awareness and detection of clinical features of Down’s Study (BiDS): design and baseline visual function.Op-
syndrome will decrease the complications and sight threat- tom Vis Sci. 2009;86:196-207.
ening conditions. This study suggests that children having 8. Little JA, Woodhouse JM, Saunders KJ. Corneal Power
and Astigmatism in Down syndrome. Optom Vis Sci.
Down syndrome are at a greater risk of visual impairment
2009.
and therefore, early detection should be emphasized to pre- 9. Fong AH, Shum J, Ng AL, Li KK, McGhee S, Wong
vent ocular related problems. This article provides a more D. Prevalence of ocular abnormalities in adults with
information of the prevalence and severity of the complica- Down syndrome in Hong Kong. Br J Ophthalmol. 2013;
tions in patients with Down’s syndrome. 97:423-8.
10. Han DH, Kim KH, Paik HJ. Refractive errors and stra-
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Source of Support: Nil; Conflict of Interest: None

Submitted: 19-03-2016; Published online: 19-04-2016

International Journal of Contemporary Medical Research 1335

ISSN (Online): 2393-915X; (Print): 2454-7379 | ICV: 50.43 | Volume 3 | Issue 5 | May 2016