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Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship

ABSTRACT

This report refers to a two years and nine months patient, carrier of clinical anophthalmia in her right eye associated with posterior coloboma in her left eye and systemic malformations. The mother was vaccinated against rubella three months before conception and, at birth, the laboratory tests showed 267 IU/mL for rubella IgG antibodies level and 3,5 IU/mL for cytomegalovirus, being IgM antibodies negative for both. The abnormalities found have characteristics of congenital rubella syndrome (CRS) and congenital cytomegalovirus infection. It can also constitute genetic alteration, derive from other etiologies or present themselves without explanation. The patient’s psychological evaluation was within normal limits, being referred for vision rehabilitation. The mother manifested depressive symptoms, being shown to her specialized treatment. Further studies are needed to clarify the etiology of congenital eye malformations and the holistic cares to be valued during the relationship ophthalmologist-patient.

Keywords:
Anophthalmos; Microphthalmos; Congenital abnormalities; Adaptation, Psychological; Case reports

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