The anophthalmia is a rare eye condition characterized by the absence of one or both eyes, the etiology is not elucidated, and may be congenital, acquired or associated with other systemic syndromes. Regarding etiology, have been described in the literature chromosomal aberrations, genetic mutations and environmental factors as responsible for the appearance of the anomaly. There is no consensus about the actual incidence of anophthalmia, due to the scarcity of official data, especially in Brazil. In this study we report a case of a female patient who has congenital bilateral anophthalmia, with no other abnormalities. This study used data compiled from hospital medical records, laboratory tests and imaging performed during hospitalization, and clinical exams to monitor post-discharge and a questionnaire given to the guardians by the patient. Genetic factors and not involved in the development of genetic abnormalities as well as complications arising from the aesthetic and psychosocial anophthalmia were discussed. We conclude that age may be related to the appearance of anophthalmia and that the wider dissemination of this rare congenital anomaly would give health professionals, particularly to ophthalmologists, additional knowledge to handle the physical, social and humanistic involved in patient care and their families, minimizing the severity and extent of their effects.
Anophthalmos; Congenital abnormalities; Eye abnormalities; Infant; newborn; diseases; Adaptation; psychological; Case reports
