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Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.
Jennifer C W Hu1, Aliaa H Abdelhakim1, Victoria S North1
1Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
Ophthalmic Genetics
|November 29, 2022
Summary
Osteopathia striata with cranial sclerosis (OS-CS) can cause severe vision loss due to optic nerve compression. Surgical decompression improved outcomes in a pediatric case with an AMER1 mutation.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Osteopathia striata with cranial sclerosis (OS-CS) is a rare inherited skeletal dysplasia.
- It is characterized by macrocephaly, orofacial abnormalities, and thickened craniofacial bones.
Observation:
- A 4-year-old girl with OS-CS presented with severe optic neuropathy.
- Radiographic and histopathological findings revealed optic nerve canal narrowing due to osseous thickening.
- Genetic testing identified a de novo heterozygous mutation in AMER1 (c.1057C>T, p.Arg353Ter).
Findings:
- Optic nerve atrophy was evident, particularly on the left side, despite a functioning ventriculoperitoneal shunt.
- The patient underwent bilateral orbital osteotomies and optic canal decompression.
- Postoperative vision remained stable at 11 months.
Implications:
- This case highlights severe visual loss as a complication of OS-CS-associated optic nerve compression.
- Surgical intervention may be beneficial in managing optic neuropathy in OS-CS patients.
- Further research into OS-CS and its neurological complications is warranted.
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