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Autosomal dominant keratitis: a possible aniridia variant

W G Pearce¹, B W Mielke, D T Hassard

¹Department of Ophthalmology, University of Alberta, Edmonton.

Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie

|April 1, 1995

Summary

This study describes hereditary keratitis in a family, revealing autosomal dominant inheritance with corneal opacification and vascularization. Associated macular hypoplasia suggests a link to aniridia variants.

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Area of Science:

Ophthalmology
Medical Genetics

Background:

Hereditary keratitis presents a diagnostic challenge.
Understanding its genetic basis and clinical manifestations is crucial for patient management.

Observation:

A four-generation family exhibited hereditary keratitis.
Affected individuals showed corneal opacification and vascularization at Bowman's membrane level.
Macular hypoplasia and iris abnormalities were also noted.

Findings:

Autosomal dominant inheritance pattern observed.
Corneal changes included circumferential opacification and vascularization, sometimes progressing centrally.
Histopathology confirmed anterior stromal inflammation.
Macular hypoplasia present in 13/15 affected members.

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Iris abnormalities such as stromal defects and ectropion uveae were present.

Implications:

The constellation of corneal, iris, and macular findings suggests hereditary keratitis may be a variant of aniridia.
Further research into this genetic disorder is warranted.