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Corticosteroid response in dominant congenital glaucoma.

T Jerndal, M Munkby

Acta Ophthalmologica

|June 1, 1978

Summary

Parents of children with hereditary infantile congenital glaucoma showed varied responses to corticosteroid eye-drops. A high response correlated with glaucoma ancestry and goniodysgenesis, suggesting a genetic link.

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Area of Science:

Ophthalmology
Genetics
Pediatric Medicine

Background:

Hereditary infantile congenital glaucoma (HICG) is a severe form of childhood glaucoma.
Understanding the genetic basis of HICG is crucial for early diagnosis and intervention.
Corticosteroid responsiveness has been implicated in certain ocular conditions.

Observation:

Parents of children diagnosed with goniodysgenesis and HICG were subjected to corticosteroid provocation tests.
A notable trend emerged where one parent in a couple exhibited a significant intraocular pressure rise (≥9 mmHg) after corticosteroid application, while the other showed a lesser response (≤9 mmHg).

Findings:

Among parents with a pronounced pressure rise, five had a family history of glaucoma and evident goniodysgenesis.
These findings support the hypothesis that HICG results from a dominant goniodysgenesis with variable expressivity.
A heightened corticosteroid response appears to be associated with this specific form of goniodysgenesis.

Implications:

The study suggests a genetic correlation between corticosteroid response and goniodysgenesis in hereditary infantile congenital glaucoma.
This inherited corticosteroid response is not exclusive to simple glaucoma, indicating broader genetic implications.
Further research into genetic markers for corticosteroid responsiveness could aid in predicting glaucoma risk and progression.

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