BILATERAL CONGENITAL MYDRIASIS WITH ACCOMPANYING MIXED DEVELOPMENTAL DELAY
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Bilateral congenital mydriasis, dilated pupil, mixed developmental delay, pediatric ophthalmology
Abstract
Introduction: Congenital bilateral mydriasis is a rare condition characterized by fixed dilated pupils unresponsive to light. It may occur associated with cardiovascular syndrome, gastrointestinal malformation, or developmental delay. Referred causes in comprehensive differential diagnosis for congenital mydriasis include alterations in ocular structures, ocular innervation alterations and others secondary to trauma, infection, or topical medication.
Case Illustration: A 10 months-old boy presented to the hospital with large pupils in both eyes since birth. He has a persistent pupillary membrane with 9 mm diameter of pupil and unable to respond to light in both eyes. The pupillary response test using pilocarpine solution 0.1% showed no difference in diameter of pupils. Comprehensive pediatric examination revealed developmental delay. Computed tomography and laboratory result (laboratory blood count, toxoplasmosis, and cytomegalovirus) within normal limit. After eight months follow up, no significant change in pupil size or light responsiveness was found.
Discussion: Comprehensive examination of anterior to posterior segments of the eyes is imperative on the lookout for underdiagnosed diseases. Clinical assessment remains vital for guiding investigations. Observation is required to detect the presence of certain systemic abnormalities that frequently do not manifest at birth.
Conclusion: Congenital mydriasis can be diagnosed quickly in ordinary conditions, but it can be quite challenging when it presents as a coincidental finding of other spectrum diseases. It is important to perform a comprehensive general and eye examination to rule out any serious condition related to it.
Keyword: Bilateral congenital mydriasis, dilated pupil, mixed developmental delay, pediatric ophthalmology
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References
Richardson P, Schulenburg WE. Bilateral congenital mydriasis. Br J Ophthalmol. 1992;75(10):632-633. doi:10.1136/bjo.76.10.632
Roulez FMJ, Faes F, Delbeke P, et al. Congenital fixed dilated pupils due to ACTA2-Multisystemic smooth muscle dysfunction Syndrome. J Neuro-Ophthalmology. 2014;34(2):137-143. doi:10.1097/WNO.0000000000000090
Carrascosa-Romero MC, Ruiz-Cano R, Martínez-López F, Alfaro-Ponce B, Pérez-Pardo A. Midriasis congénita como signo inicial de displasia septo-óptica. Arch Soc Esp Oftalmol. 2013;88(10):398-402. doi:10.1016/j.oftal.2012.05.005
Shoaibi A, Neelon B, Østbye T, Benjamin-Neelon SE. Longitudinal associations of gross motor development, motor milestone achievement and weight-for-length z score in a racially diverse cohort of US infants. BMJ Open. 2019;9(1):1-8. doi:10.1136/bmjopen-2018-024440
Choo YY, Agarwal P, How CH, Yeleswarapu SP. Developmental delay: Identification and management at primary care level. Singapore Med J. 2019;60(3):119-123. doi:10.11622/smedj.2019025
Ware SM, Shikany A, Landis BJ, James JF, Hinton RB. Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. Pediatrics. 2014;134(4):e1218-e1223. doi:10.1542/peds.2013-2503
Caccamise WC, Townes PL. Bilateral congenital mydriasis. Am J Ophthalmol. 1976;81(4):515-517. doi:10.1016/0002-9394(76)90312-3
Regalado ES, Mellor-Crummey L, De Backer J, et al. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genet Med. 2018;20(10):1206-1215. doi:10.1038/gim.2017.245
Kaeser PF, Kawasaki A. Disorders of Pupillary Structure and Function. Neurol Clin. 2010;28(3):657-677. doi:10.1016/j.ncl.2010.03.007
Lam S, Guimaraes C, Jones JY. Congenital Mydriasis With Aortic and Cerebrovascular Disease. Pediatr Neurol. 2017;74:100-101. doi:10.1016/j.pediatrneurol.2017.05.011
Sherlon J. Bilateral Congenital Mydriasis. Congenit Bilater Mydriasis, Case Report; Rumah Sakit Mata Cicendo. 2018;4(3):57-71. http://perpustakaanrsmcicendo.com/perpus1/index.php?p=show_detail&id=5530
McClelland C, Walsh RD, Chikwava KR, Johnson MP, Mattei P, Liu GT. Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. J Neuro-Ophthalmology. 2013;33(3):271-275. doi:10.1097/WNO.0b013e31828b7d65
Taubenslag KJ, Scanga HL, Huey J, et al. Iris anomalies and the incidence of ACTA2 mutation. Br J Ophthalmol. 2019;103(4):499-503. doi:10.1136/bjophthalmol-2018-312306
Lam C wan, Yeung W lan, Law C yiu. Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. Clin Chim Acta. 2017;469:63-68. doi:10.1016/j.cca.2017.03.022
Toizumi M, Nguyen GTH, Motomura H, et al. Sensory defects and developmental delay among children with congenital rubella syndrome. Sci Rep. 2017;7:1-11. doi:10.1038/srep46483
Saleem J, Zakar R, Bukhari GMJ, Fatima A, Fischer F. Developmental delay and its predictors among children under five years of age with uncomplicated severe acute malnutrition: a cross-sectional study in rural Pakistan. BMC Public Health. 2021;21(1):1-10. doi:10.1186/s12889-021-11445-w
Moeschler JB, Shevell M, Saul RA, et al. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903-e918. doi:10.1542/peds.2014-1839
Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. J AAPOS. 2014;18(4):393-395. doi:10.1016/j.jaapos.2014.02.010
Rao A. Isolated Bilateral Congenital Iris Sphincter Agenesis. Case Rep Ophthalmol Med. 2011;2011:1-2. doi:10.1155/2011/479092
Atik S, Koc F, Kaplan YC, Yurtseven SG. Congenital mydriasis: Diagnostic challenge in a case with accompanying neurologic symptoms. Neuro-Ophthalmology. 2014;38(3):153-155. doi:10.3109/01658107.2014.894089
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