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[Congenital corneal anesthesia in children: diagnostic and therapeutic problems]
M Momtchilova1, B Pelosse, S Mathieu
1Service d'Ophtalmologie.
Insights
Congenital corneal anesthesia (CCA) is a rare condition causing reduced corneal sensation. Early diagnosis and treatment, including preventing self-inflicted injuries, are crucial for healing and preserving vision in affected children.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Congenital corneal anesthesia (CCA) is an uncommon condition characterized by reduced corneal sensation from birth.
- CCA can be an isolated finding or associated with systemic conditions like familial dysautonomia or Goldenhar Gorlin syndrome.
Observation:
- A 9-month-old girl presented with bilateral congenital corneal anesthesia and a non-healing corneal ulcer.
- The child exhibited self-inflicted corneal injuries, complicating the presentation.
Findings:
- Local treatment combined with arm splints resulted in rapid healing of the corneal ulcer.
- The case highlights the diagnostic challenges and management of CCA in infants.
Implications:
- Promptly identifying corneal anesthesia in children with chronic corneal ulcers and self-inflicted injuries is vital.
- Early intervention is essential for preventing vision loss and managing long-term outcomes in CCA patients.
Abstract:
Congenital corneal anesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 9-month-old girl who presented bilateral congenital corneal anesthesia. The child had a corneal ulcer which had been unresponsive to adapted local treatment. Self-inflicted corneal injuries were present. Local treatment and arm splints led to quick healing. CCA occurs either alone or in association with neurological diseases (familial dysautonomia) or systemic congenital abnormalities (Goldenhar Gorlin syndrome). It is important to search for corneal anesthesia in children with chronic ulcerations of the cornea and self-inflicted injuries. Early diagnosis is important due to the risk for the visual prognosis. Short and longterm prevention of self-inflicted corneal injuries should be associated with a local treatment to assure rapid healing and a relapse free outcome.