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Vol. 95. Issue 4.
Pages 201-204 (April 2020)
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Vol. 95. Issue 4.
Pages 201-204 (April 2020)
Short communication
DOI: 10.1016/j.oftale.2019.12.006
Primary megalocornea: case report
Megalocórnea esencial: relato de caso
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Alessandro de Sousa Veigaa, Neiffer Nunes Rabelob, Wagner Duarte Batistac, Andressa Mayumi Matucumad, Josué da Silva Britod,
Corresponding author
josuedasilvabrito1998@gmail.com

Corresponding author.
, Murillo Cintra Husnia,b,c,d
a Fellowship in the Glaucoma and Cataract Reference Center of the Holy House of Mercy Eye Clinic in Belo Horizonte, Brazil
b Resident in the Holy House of Mercy Eye Clinic in Belo Horizonte, Brazil
c Chief in the Glaucoma and Cataract Reference Center of the Holy House of Mercy Eye Clinic in Belo Horizonte, Brazil
d Medical Students, Atenas University Center, Paracatu, Brazil
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Tables (2)
Table 1. Ophthalmologic indices and parameters presented.
Table 2. Clinical data that allow the differential diagnosis between megalocornea and congenital glaucoma and buphthalmos.6,7
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Abstract

The neonate has a horizontal diameter of the cornea, usually up to 10 mm with growth up to 2 mm in the first 2 years of life. We report a case of megalocornea, a rare, recessive, X-linked disorder in a 3-month-old child, seeking to review what the medical literature brings information about the condition, as well as diagnostic and follow-up parameters, of its main differential diagnoses.

Keywords:
Megalocornea
Congenital glaucoma
Nervous system malformation
Genetic diseases
X-Linked
Resumen

El neonato tiene un diámetro horizontal de la córnea, generalmente de hasta 10 mm, con un crecimiento de hasta 2 mm en los primeros 2 años de vida. Presentamos un caso de megalocornea, un trastorno raro, recesivo, ligado al cromosoma X en un niño de 3 meses de edad, buscando revisar lo que la literatura médica aporta información sobre la enfermedad, así como los parámetros diagnósticos y de seguimiento de sus principales diagnósticos diferenciales.

Palabras clave:
Megalocórnea
Glaucoma congénito
Malformaciones del sistema nervioso
Enfermedades genéticas ligadas al cromosoma X

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