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Huge peripapillary staphyloma with craniofacial clefts: A case report
1Department of Ophthalmology, Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
European Journal of Ophthalmology
|July 29, 2020
Summary
This case report details the first observed instance of a congenital peripapillary staphyloma co-occurring with craniofacial clefts in a young boy. This rare combination offers insights into diagnosing and treating these distinct congenital anomalies.
Area of Science:
- Ophthalmology
- Pediatric Surgery
- Medical Imaging
Background:
- Congenital peripapillary staphyloma and craniofacial clefts are rare, distinct developmental anomalies.
- The co-occurrence of these conditions is exceptionally uncommon.
Purpose of the Study:
- To report the first documented case of congenital unilateral huge peripapillary staphyloma associated with craniofacial clefts.
- To highlight the diagnostic and therapeutic implications of this rare co-occurrence.
Main Methods:
- A case report of a 1-year-old boy with craniofacial clefts.
- Magnetic resonance imaging (MRI) to assess craniofacial and orbital structures.
- Ophthalmic examination under anesthesia, including funduscopy, to evaluate the peripapillary region.
Main Results:
- The patient presented with eyelid defects, nasal abnormalities, and palatal/alveolar cracks.
- MRI revealed craniofacial abnormalities and a gourd-shaped right eyeball with a compressed optic nerve.
- Fundus examination showed a 15mm deep peripapillary excavation with optic disc anomalies.
Conclusions:
- The simultaneous occurrence of peripapillary staphyloma and craniofacial clefts is reported for the first time.
- This case provides valuable experience for the diagnosis and treatment of both conditions.
- The findings offer pathogenic insights for future research into these rare congenital defects.
