Pérez FM, Rondón PN, Remón RE, Frías BR

Language: Spanish
References: 12
Page:
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ABSTRACT

There are discussed the ophthalmologic characteristics of three patients, two siblings (male and female) and their mother with diagnosis of congenital anophthalmus. The anophthalmus is a genetic disorder that is produced when there is a failure in the neuroectoderm development starting from the anterior neural plate to the neural tube, during the embryologic development; this is a unilateral intrauterine anomaly, for which it is congenital, and may be unilateral or bilateral with idiopathic and sporadic etiology. It is presented by a recessive or bound inheritance to the sex: trisomy 13-15. These patients are characterized by the absence of the eyeball in the orbital cavity, small orbits, with reduction of the bone cavity, small optic holes, absent extrinsic musculature as well as the glands and lachrymal conduits. There is a reduction of the eyelids, a marked decrease of the sacs, with shallow fornix conjunctivae, almost identical features in the three patients; the difference is that the male and his mother have unilateral anophthalmus and the daughter has bilateral anophthalmus.

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