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Iris sector heterochromia as a marker for neural crest disease
S M Brazel1, T J Sullivan, P S Thorner
1Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
This study details the histopathology of ocular abnormalities in an infant with Hirschsprung disease, linking both conditions to neural crest cell defects. Findings reveal specific iris stroma and pigmentation changes in the affected eye.
Area of Science:
- Ophthalmology
- Developmental Biology
- Pediatric Gastroenterology
Background:
- Hirschsprung disease is a congenital disorder affecting the large intestine, caused by absent nerve cells.
- Sector heterochromia, a difference in iris coloration, has been associated with Hirschsprung disease.
- Both conditions are thought to originate from neural crest cell development defects.
Observation:
- A 6-month-old female infant presented with biopsy-proven Hirschsprung disease and sector heterochromia.
- Histopathologic examination of the ocular globes was performed to detail the iris abnormalities.
Findings:
- Histopathology revealed decreased iris stroma and reduced pigmentation in the affected iris sectors.
- A decreased number of pigment-producing cells were observed in the affected ocular areas.
- These ocular findings correlate with the known neural crest origin of Hirschsprung disease.
Implications:
- This study provides the first histopathologic description of ocular involvement in Hirschsprung disease.
- Understanding these shared neural crest origins can aid in diagnosing and managing associated conditions.
- Further research into neural crest cell development may reveal new therapeutic targets for related disorders.
Abstract:
A 6-month-old female infant with biopsy-proved Hirschsprung's disease had associated sector heterochromia of the irides. The association between sector heterochromia and Hirschsprung's disease has been previously reported and both conditions have been ascribed to neural crest defects. Histologic characteristics of the ocular involvement have not previously been reported, to our knowledge. Histopathologic examination of the globes revealed decreased iris stroma, decreased pigmentation in the anterior stroma, and reduced numbers of pigment-producing cells in the affected areas. Both the ocular and gastrointestinal findings reflect abnormalities in tissues of neural crest origin.