ANIRIDIA E PERDA AUDITIVA CONGÊNITA: RELATO DE CASO.

Congenital aniridia is manifested by changes in the structure and function of the eye, including degrees of iris hypoplasia. The non-syndromic genetic hearing loss may be caused by mutations in the genes GJB2 and GJB6 located in the chromosome 13q11-q12. The purpose of the study was to understand aniridia and congenital hearing loss, the limitations and comorbidities resulting from these pathologies. It is a report of a five-year-old child, male, son of consanguineous parents. During pregnancy, endovaginal ultrasonography showed an increase in nuchal translucency and a prenatal karyotype examination was performed, observing an apparently balanced translocation between the long arms of chromosomes 12 and 13 (q21.2; q12). At birth, the Red Reflex Test presented unchanged. The Neonatal Hearing Screening showed no auditory brainstem response bilaterally, and the diagnosis of deep bilateral sensorineural hearing loss was later made. The parents noticed that the infant cried when exposed to intense light, they looked for an ophthalmologic evaluation that confirmed aniridia. Prenatal research and early diagnosis contribute to a favorable prognosis and optimize the life quality of children with these pathologies. It was noted the association between the pathologies, being relevant to continue the genetic study and additional research. [ABSTRACT FROM AUTHOR]