Bilateral congenital anophthalmia A case report.

Main Article Content

Domenica Jijon
Tania Perez
Luis Celi
Rosario Vaca

Abstract

Introduction: Congenital anophthalmia is a rare ocular malformation consisting of the absence of the eyeball at birth and can occur unilaterally or bilaterally.


Clinical case: Its complex etiology includes environmental and genetic factors. This pathology has an estimated overall prevalence of 3 per 100,000 live births in isolation and 30 per 100,000 live births associated with other malformations, representing approximately 4% of the causes of blindness.


Diagnostic workshop: In Ecuador, of the registered disabilities, 12% correspond to visual disabilities, and of these, 24% are associated with perinatal causes. Anophthalmia can be diagnosed both prenatally and postnatally, and its treatment, complex and prolonged, will depend on the degree of severity of the pathology and the time of diagnosis as well as the start of treatment


Evolution: This malformation contributes significantly to infant morbidity and has an essential impact on the child and his or her family, so prenatal diagnosis is essential to initiate early intervention by a multidisciplinary team that, along with medical treatment, emphasizes emotional and psychological support to the family.


Conclusions: Congenital anophthalmia is a severe eye malformation that can significantly impact the life of the child and their family.

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How to Cite
Jijón, D., Pérez Cárdenas, T. C., Celi Cueva, L., & Vaca, R. (2023). Bilateral congenital anophthalmia : A case report. Revista Ecuatoriana De Pediatría, 24(2), 160-167. https://doi.org/10.52011/211
Section
Clinical Case

References

Navarrete-Hernández E, Canún-Serrano S, Valdés-Hernández J, Reyes-Pablo AE. Malformaciones congénitas al nacimiento: México, 2008-2013 [Congenital malformations at birth: Mexico, 2008-2013]. Bol Med Hosp Infant Mex. 2017 Jul-Aug;74(4):301-308. Spanish. doi: 10.1016/j.bmhimx.2017.02.003. Epub 2017 Jul 8. PMID: 29382520.

García-Montalvo A, Zenteno C. Genetic basis of severe congenital eye defects. Revista Mexicana de Oftalmología. 2013;87(1):64-70.elsevier.es

Rojas Rondón I, Hazel Turiño Peña I, Lázara Ramírez García I, Danay Duperet Carvajal I, Yoandre Michel Carrazana Pérez I, Susana Rodríguez Masó I Instituto Cubano de Oftalmología II, et al. Manejo clinicoquirúrgico de la anoftalmia y de la microftalmia congénitas Clinical and surgical management of congenital anophthalmia and microphthalmia. Revista Cubana de Oftalmología. 2016;29. Available from: http://scielo.sld.cu

Reyna-Villasmil E, Briceño-Sanabria L, Briceño-Pérez C. Diagnóstico prenatal temprano de anoftalmia bilateral aislada. Reporte de caso clínico [Internet]. 2022. Available from: https://avum.org/2022_2_1/9CC_2022_2

Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390; PMCID: PMC2246098.

Källén B, Robert E, Harris J. The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol. 1996 Oct;25(5):1009-16. doi: 10.1093/ije/25.5.1009. PMID: 8921488.

Mejia E, Cárdenas M. Anoftalmía bilateral congénita: a propósito de un caso Bilateral congenital anophthalmia: regarding a case Anofaltalmia congénita bilateral: um relato de caso. Revista Científica Mundo de la Investigación y el Conocimiento. 2022;284–90. recimundo/1800

López Muñoz H, Aguayo Saldías C, Lillo Climent F, Antileo Ramírez M. Anoftalmia congénita. Reporte de una serie familiar. Odontoestomatologia. 2017 May 31;19(29):85–90.scielo.uy/S1688

María D, Navas-Aparicio C, Hernández-Carmona SJ. Anoftalmía y microftalmía: descripción, diagnóstico y conducta de tratamiento. Revisión bibliográfica Artemisa medigraphic en línea. Vol. 82, 205 Julio-Agosto. 2008. Medigraphic/17596

Ríos-Méndez RE, Lozano Chinga MM. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report. Medwave. 2016 Oct 7;16(9):e6568. Spanish, English. doi: 10.5867/medwave.2016.09.6568. PMID: 27813502.

Consejo Nacional para la Igualdad de discapacidades - CONADIS. Estadísticas de discpacidad. 2022 [cited 2023 Mar 27]. Estadísticas de Discapacidad – Consejo Nacional para la Igualdad de Discapacidades. Available from:consejodiscapacidades.ec/

Rodríguez Pujals R, Roberto Lardoeyt Ferrer I, José Reyes Vega I, Miltón Jijón Arguello I, Milaydes Lardoeyt Ferrer I, Mercedes Gámez Fonseca VV, et al. Clinical and etiologic characterization of major disabilities in the Republic of Ecuador. Vol. 5, Rev Cubana Genet Comunit. 2011.Medigraphic