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[Bilateral congenital anophthalmos].

M Chynoranský¹

¹Katedra oftalmológie LF UK, Bratislava.

Ceskoslovenska Oftalmologie

|May 1, 1990

Summary

This study reports a rare case of congenital bilateral anophthalmos in a child, linked to the mother's unilateral microphthalmus. Radiation exposure in the grandmother likely caused a dominant "de novo" mutation, leading to this autosomal dominant condition.

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Area of Science:

Ophthalmology
Medical Genetics
Radiation Biology

Background:

Congenital anophthalmos and microphthalmos are rare developmental disorders of the eye.
Genetic factors and environmental influences, such as radiation exposure, are implicated in ocular abnormalities.

Observation:

A child presented with congenital bilateral anophthalmos.
The child's mother had unilateral microphthalmos.
The grandmother, an X-ray laboratory assistant, had prolonged exposure to ionizing radiation without adequate protection.

Findings:

The likely cause is a dominant "de novo" mutation in the germinal cells of the grandmother, induced by radiation exposure.
The condition exhibits autosomal dominant transmission with variable expressivity.

Implications:

This case highlights the potential teratogenic effects of ionizing radiation on germ cells, leading to severe congenital eye malformations.
Understanding the genetic basis and transmission patterns of anophthalmos and microphthalmos is crucial for genetic counseling and risk assessment.
Further research into radiation-induced mutations and their impact on embryonic development is warranted.

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