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 Table of Contents  
ORIGINAL RESEARCH REPORT
Year : 2021  |  Volume : 18  |  Issue : 3  |  Page : 128-132

Pattern of congenital ocular anomailes among children seen at a West African tertiary eye care centre: A retrospective study


1 Department of Ophthalmology, Guinness Eye Centre, Lagos University Teaching Hospital/College of Medicine, University of Lagos, Lagos, Nigeria
2 Department of Ophthalmology Guinness Eye Centre, Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria

Date of Submission05-Jun-2020
Date of Acceptance04-Aug-2020
Date of Web Publication23-Aug-2021

Correspondence Address:
Dr. Kareem Olatunbosun Musa
Department of Ophthalmology Guinness Eye Centre, Lagos University Teaching Hospital/College of Medicine, University of Lagos, Idi-Araba, Lagos
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcls.jcls_48_20

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  Abstract 


Background: The purpose of the study was to describe the pattern of presentation of congenital ocular anomalies (COAs) among children seen at the, Department of Ophthalmology (Guinness Eye Centre), Lagos University Teaching Hospital, Lagos, Nigeria). Methods: A retrospective chart review of children below the age of 16 years who were diagnosed of any type of congenital ocular anomaly at the Pediatric Ophthalmology Clinic of Lagos University Teaching Hospital, Lagos, Nigeria between January 2012 and December 2018 was done. Information concerning the age at presentation, gender, affected eye(s), visual acuity, and type of congenital anomaly was retrieved from the case files. Results: Seven hundred and forty-five eyes of 470 patients with congenital anomalies which constituted 13.6% of all the new pediatric ophthalmic consultations were studied. Two hundred and seventy-five (58.5%) children had bilateral ocular involvement, while 262 (55.7%) presented within the first year of life. The median age was 0.92 years with an interquartile range of 2.67 years. There were 255 (54.5%) males, with a male-to-female ratio of 1.2:1. Congenital cataract was the most common congenital ocular anomaly documented in 224 (30.1%) eyes of 133 patients. This was followed by congenital squint (131 eyes, 17.6%), congenital glaucoma (91 eyes, 12.2%), and corneal opacity (52 eyes, 7.0%). Overall, cataract, squint, glaucoma, corneal opacity, nasolacrimal duct obstruction, and ptosis accounted for 79.0% of the COAs documented in this study. Conclusion: COAs accounted for 13.6% of pediatric ophthalmic consultations in this study. Congenital cataract, squint, glaucoma, corneal opacity, nasolacrimal duct obstruction, and ptosis were the most common COAs observed.

Keywords: Children, congenital ocular anomalies, tertiary eye care, West African


How to cite this article:
Musa KO, Agboola SA, Sam-Oyerinde OA, Salako ST, Kuku CN, Uzoma CJ. Pattern of congenital ocular anomailes among children seen at a West African tertiary eye care centre: A retrospective study. J Clin Sci 2021;18:128-32

How to cite this URL:
Musa KO, Agboola SA, Sam-Oyerinde OA, Salako ST, Kuku CN, Uzoma CJ. Pattern of congenital ocular anomailes among children seen at a West African tertiary eye care centre: A retrospective study. J Clin Sci [serial online] 2021 [cited 2021 Dec 8];18:128-32. Available from: https://www.jcsjournal.org/text.asp?2021/18/3/128/324403




  Introduction Top


Congenital anomalies are structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later in infancy.[1] Congenital ocular anomalies (COAs) contribute significantly to childhood visual impairment and blindness.[2],[3] Some of these anomalies have only cosmetic significance, while others cause no symptoms and may be an incidental finding.[3] They may occur in isolation, in combination, or as part of a systemic malformation syndrome.[4] The etiology of COAs may be genetic, environmental, or, more commonly, idiopathic.[4]

Globally, the pattern of COAs varies from region to region. Congenital cataract and glaucoma had been reported to be the most common anomalies in developing countries,[2],[5],[6],[7],[8] while anophthalmos, microphthalmos, and coloboma are predominant in developed nations.[9]

Severe visual loss arising from some of these ocular anomalies in early childhood could adversely affect their development, mobility, education, social life, and employment opportunities.[2] In addition, accompanying parents and/or caregivers lose valuable time and resources seeking interventions for these children. It is therefore imperative that they are better characterized to aid appropriate intervention strategy and resource allocation.

Therefore, this study sought to describe the pattern of COAs among children seen at Guinness Eye Centre, Lagos University Teaching Hospital, with a view to providing information that could be useful for health planning and advocacy.


  Methods Top


A retrospective review of the case files of children below the age of 16 years who were diagnosed with any type of congenital ocular anomaly at the Pediatric Ophthalmology Clinic of our University Teaching Hospital between January 2012 and December 2018 was done. Information concerning the age at presentation, gender, affected eye(s), visual acuity, and type of congenital anomaly was retrieved from the case files. Visual acuities of the children were evaluated using age-appropriate qualitative and quantitative assessment methods. Preverbal children were assessed using fixation and following of light as well as preferential looking using Lea paddles. Verbal children had their visual acuities assessed using hundreds and thousands, Kay's pictures, Lea symbols, and Snellen's chart. Co-operative children were examined without sedation, while unco-operative children were examined under sedation using syrup chloral hydrate (40–60 mg/kg/dose) Ethical approval was obtained from the Health Research Ethics Committee of Lagos University Teaching Hospital, Lagos, Nigeria (Approval Number: ADM/DCST/HREC/APP/1915).

Data obtained was analyzed using the Statistical Package for the Social Sciences version 20 (IBM Corp. Armonk, NY, USA). Data were presented in tables. The quantitative visual acuity was classified into normal vision, visual impairment, and blindness using the International Classification of Disease, 11th revision, as much as possible.[10] Normality of numerical variables was ascertained using Shapiro–Wilk test. The association between categorical variables was analyzed using Chi-square test, and Fisher's exact was used as appropriate. P < 0.05 was considered to be statistically significant.


  Results Top


Seven hundred and forty-five eyes of 470 patients with congenital anomalies were studied. This accounted for 13.6% of all the new pediatric ophthalmic consultations during the years under review. The youngest patient at presentation was a 9 h-old neonate with bilateral congenital lid eversion, while the oldest patient was a 15-year-old teenager with bilateral congenital cataract. The median age was 0.92 years, with an interquartile range of 2.67 years (P < 0.001 for Shapiro–Wilk test). There were 255 (54.5%) males with a male-to-female ratio of 1.2:1. There was no statistically significant association between gender and age at presentation (P = 0.37).

Two hundred and seventy-five (58.5%) children had bilateral ocular involvement, while ocular affectation was unilateral in 195 (41.5%) children [Table 1]. Only 43 (9.1%) presented within the first month of life, while 262 (55.7%) presented within the first year of life. Overall, majority (87.4%) presented within the first 5 years of life, as shown in [Table 1]. [Table 2] shows the presenting visual acuity (VA) distribution in the affected eyes of the patients. Sixty-eight (9.1%) eyes were blind (VA < 3/60), 67 (9.0%) had moderate/severe visual impairment (VA < 6/18–3/60), while 151 (20.3%) had poor light fixation and did not follow light. Thirty-four (50.0%) of the 68 blind eyes as well as 32 (47.8%) of the 67 eyes with moderate/severe visual impairment were due to congenital cataract, making it the most blinding and visually impairing congenital ocular anomaly in this study.
Table 1: Laterality and demographic characteristic of the patients

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Table 2: Presenting visual acuity distribution in the affected eyes of the patients

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Congenital cataract was the most common congenital ocular anomaly documented in 224 (30.1%) eyes of 133 patients [Table 3]. It was also the most common bilateral (91 patients, 33.1%) as well as unilateral (42 patients, 21.5%) congenital ocular anomaly. This was followed by congenital squint (131 eyes, 17.6%), congenital glaucoma (91 eyes, 12.2%), and corneal opacity (52 eyes, 7.0%). Overall, cataract, squint, glaucoma, corneal opacity, nasolacrimal duct obstruction, and ptosis accounted for 79.0% of the COAs documented in this study.

The most common type of congenital squint was congenital esotropia (119, 90.8%), while congenital exotropia was documented in 12 (9.2%) eyes. The causes of congenital corneal opacity were Peter's anomaly (16, 30.8%), sclerocornea (12, 23.1%), congenital hereditary endothelial dystrophy (9, 17.3%), anterior segment dysgenesis (2, 3.8%), others (6, 11.5%), and undocumented (7, 13.5%).
Table 3: Types of congenital anomalies

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[Table 4] shows the association between the type of congenital anomaly and gender. Congenital squint and congenital macula scar were significantly more common among females (P < 0.001) and males (P = 0.04), respectively. Presentation within the first year of life was documented in 69 (51.9%) of 133 children with congenital cataract; 38 (51.4%) of 74 children with congenital squint; 35 (63.6%) of 55 children with congenital glaucoma, and 25 (78.1%) of 32 children with congenital corneal opacity. Furthermore, 17 (53.1%) of 32 children with nasolacrimal duct obstruction as well as 18 (52.9%) of 34 children with congenital ptosis presented within the first year of life.
Table 4: Association between congenital anomalies and gender

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  Discussion Top


COAs are global phenomena sparing no region of the world. It accounted for 13.6% of pediatric ophthalmic consultations in this study. This is higher than 9.7% reported by Adekoya et al.[11] who analyzed 40 patients in another tertiary eye care center in Lagos, Nigeria. This disparity might be due to the smaller number of cases studied in the latter study. The prevalence of COA from previous studies from Nigeria ranged from 1.7% to 10.3%.[5],[7],[12] Eballé et al.[13] reported a prevalence of 6.65% among children aged 0–5 years in Cameroun, while Kaimbo Wa Kaimbo et al.[14] reported a prevalence of 2.2% in Zaire. Furthermore, Ilechie et al.[8] reported a markedly high prevalence of 54% in a Ghanaian Paediatric Eye Centre that receives referrals from the whole country, while Bermejo and Martínez-Frías reported a prevalence of 3.68/10,000 newborns in an analysis of consecutive births in Spain.[9] In the light of the foregoing, the prevalence of COA varies from country to country and from region to region within the same country.

In this study, COA was slightly more prevalent among males. Many authors had reported the predominance of COA among males.[2],[5],[6],[7],[8],[12] On the contrary, Adekoya et al.[11] reported COA predominance among the females studied. This suggests that COA can affect both males and females. COA can be sporadic or inherited in an autosomal or X-linked pattern. It is the X-linked pattern of inheritance that usually has sex predilection. However, congenital squint and congenital macular scar were significantly more common among females and males, respectively, in this study. The reason for this is not clear and could be subject to further studies.

Approximately three-fifth of the patients had bilateral affectation. This is in agreement with the observations of Adekoya et al.[11] and Lawan.[7] However, there was a slightly more involvement of the left eye in unilateral ocular COA compared to right eye involvement contrary to the findings of Adekoya et al.[11]

Congenital cataract was the most common COA in this study. It was also the most common unilateral and bilateral COA. This is in agreement with the findings of many previous studies both within and outside Africa.[2],[5],[6],[7],[8],[11],[12],[13],[14],[15] However, it was the second most common COA from the observation of Eballé et al.,[13] Lawan[7] as well as Bermejo and Martínez-Frías.[9] Congenital cataract is one of the treatable causes of childhood blindness, especially if intervention is timely. Unfortunately, nearly half of the patients in this study presented after the first year of life. In fact, the oldest patient in this study was a 15-year-old teenager with bilateral congenital cataract. This calls for concern knowing fully well that early intervention is key to visual restoration in congenital cataract. Late presentation/intervention increases the likelihood of development of sensory deprivation amblyopia with poor visual outcomes even after surgical intervention. Late presentation has been reported among pediatric cataract patients in previous studies from Africa.[16],[17],[18] Therefore, it is needful to sensitize health workers on the importance of checking for red reflex at birth as well as during well baby and immunization clinics to ensure early detection of congenital cataract. Furthermore, the importance of early intervention in congenital cataract needs to be emphasized to parents and caregivers while giving health talks in such clinics.

Congenital squint accounted for 17.6% of COA in this study is the second most common. This is higher than the observations from previous studies from Nigeria which ranged from 1.9% to 9.7%.[5],[6],[12] The increased prevalence in this study could be attributed to the availability of strabismus surgical services in this center. Surgery is the mainstay of treatment of congenital strabismus. Ilechie et al.[8] in Ghana reported a prevalence of 11.1%, while Garg et al.[2] in India reported a prevalence of 3.5%.

Congenital glaucoma was the third most common COA in this study. This is similar to the findings of Adekoya et al.,[11] Eballé et al.,[13] and Kaimbo Wa Kaimbo et al.[14] It was the second most common COA reported by Garg et al.,[2] Bodunde and Ajibode,[5] Chuka-Okosa et al.,[6] Ilechie et al.[8] as well as Osaguona and Okeigbemen.[12] Congenital glaucoma usually presents with buphthalmos, cloudy cornea, lacrimation, and photophobia.[19] The definitive treatment is surgery which include goniotomy, trabeculotomy, combined trabeculotomy and trabeculectomy, trabeculectomy, tube shunt implantation, and ciliary body ablative procedures.[19] Timely intervention ensures the lowering of intraocular pressure and clarity of the cornea. However, late presentation leads to worsening the cloudiness of the cornea and scarring, thereby limiting the surgical options and jeopardizing a good visual outcome. In this study, only approximately two-third of the patients presented within the first year of life. Therefore, the importance of early presentation as well as early intervention cannot be overemphasized in congenital glaucoma.


  Conclusion Top


COAs accounted for 13.6% of pediatric ophthalmic consultations in this study. Congenital cataract, squint, glaucoma, corneal opacity, nasolacrimal duct obstruction, and ptosis were the most common accounting for 79.0% of the COAs observed. Late presentation was a common phenomenon with close to half of the patients presenting after the first year of life. This calls for concern and appeals for the need for concerted effort to change the narrative for the better as late presentation could jeopardize good vision in some of these conditions.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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Congenital Anomalies. World Health Organization Fact Sheet. Available from: www.who.int.mediacentre/factsheet/fs370/en/. [Last accessed on 2020 Jul 20].  Back to cited text no. 1
    
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Garg P, Qayum S, Dhingra P, Sidhu HK. Congenital ocular deformities-leading cause of childhood blindness – A clinical profile study. Indian J Clin Exp Ophthalmol 2016;2:22-7.  Back to cited text no. 2
    
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Bodunde OT, Ajibode HA. Congenital eye diseases at Olabisi Onabanjo University Teaching Hospital, Sagamu, Nigeria. Niger J Med 2006;15:291-4.  Back to cited text no. 5
    
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Chuka-Okosa CM, Magulike NO, Onyekonwu GC. Congenital eye anomalies in Enugu, South-Eastern Nigeria. West Afr J Med 2005;24:112-4.  Back to cited text no. 6
    
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Lawan A. Congenital eye and adnexial anomalies in Kano, a five year review. Niger J Med 2008;17:37-9.  Back to cited text no. 7
    
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Ilechie AA, Essuman VA, Enyionam S. Prevalence of congenital eye anomalies in a paediatric clinic in Ghana. East Mediterr Health J 2014;19 Suppl 3:S76-80.  Back to cited text no. 8
    
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Bermejo E, Martínez-Frías ML. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75:497-504.  Back to cited text no. 9
    
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Blindness and Visual Impairment. Available from: https://www.who.int/news-room/fact-sheets/detail/blindness-and-visual-impairment. [Last accessed on 2019 Oct 18].  Back to cited text no. 10
    
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Adekoya BJ, Balogun MM, Balogun BG, Ngwu RA. Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria. Int Ophthalmol 2015;35:311-7.  Back to cited text no. 11
    
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Osaguona VB, Okeigbemen VW. Congenital Ophthalmic Anomalies in Benin City, Nigeria. Ann Biomed Sci 2014;13:102-8.  Back to cited text no. 12
    
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Eballé AO, Ellong A, Koki G, Nanfack NC, Dohvoma VA, Mvogo CE. Eye malformations in Cameroonian children: A clinical survey. Clin Ophthalmol 2012;6:1607-11.  Back to cited text no. 13
    
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Kaimbo Wa Kaimbo D, Mwilambwe Wa Mwilambwe A, Kayembe DL, Leys A, Missotten L. Congenital malformations of the eyeball and its appendices in Zaire. Bull Soc Belge Ophtalmol 1994;254:165-70.  Back to cited text no. 14
    
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Riaño Galán I, Rodríguez Dehli C, García López E, Moro Bayón C, Suárez Menéndez E, Ariza Hevia F, et al. Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990-2004. An Pediatr (Barc) 2010;72:250-6.  Back to cited text no. 15
    
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Umar MM, Abubakar A, Achi I, Alhassan MB, Hassan A. Pediatric cataract surgery in National Eye Centre Kaduna, Nigeria: Outcome and challenges. Middle East Afr J Ophthalmol 2015;22:92-6.  Back to cited text no. 16
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Ezegwui IR, Aghaji AE, Uche NJ, Onwasigwe EN. Challenges in the management of pediatric cataract in a developing country. Int J Ophthalmol 2011;4:66-8.  Back to cited text no. 17
    
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Mwende J, Bronsard A, Mosha M, Bowman R, Geneau R, Courtright P. Delay in presentation to hospital for surgery for congenital and developmental cataract in Tanzania. Br J Ophthalmol 2005;89:1478-82.  Back to cited text no. 18
    
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  [Table 1], [Table 2], [Table 3], [Table 4]



 

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