Acute central corneal haze and thinning with atypical keratitis presentation

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• A 24-year-old woman presented with acute painful vision loss in her right eye.
• Initial symptoms included blurry vision, redness, and a central corneal epithelial defect.

Observation:

• Confocal microscopy revealed characteristic findings, and treatment with chlorhexidine drops led to re-epithelialization.
• Despite initial improvement, persistent corneal haze, thinning, and decreased visual acuity were noted.
• A family history revealed a younger brother with similar recurrent episodes of keratitis/keratopathy, unresponsive to conventional treatments.

Findings:

• The patient and her brother exhibited similar clinical presentations and confocal microscopy findings, suggesting a shared underlying etiology.
• The recurrent nature and familial pattern point towards a possible genetic predisposition or a specific type of inherited corneal disease.
• Response to chlorhexidine suggests a possible microbial cause, but the familial pattern raises questions about host factors or a non-infectious inflammatory condition with a genetic basis.

Implications:

• This case underscores the importance of considering genetic factors in recurrent or atypical keratitis.
• Further diagnostic evaluation, including genetic testing, may be warranted to identify the underlying cause.
• Understanding the etiology is critical for appropriate long-term management and genetic counseling for affected families.