Primary Optic Atrophy in Osteopetrosis
Osteopetrosis is a rare disorder of defective osteoclastic resorption of bone, resulting in abnormally dense bones. Two main forms are milder adult onset autosomal dominant form and severe infantile malignant autosomal recessive form. Both types of mutations lead to disturbances of acidification nee...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2013-10-01
|
| Series: | Delhi Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.7869/djo.2013.26 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Osteopetrosis is a rare disorder of defective osteoclastic resorption of bone, resulting in abnormally dense bones. Two main forms are milder adult onset autosomal dominant form and severe infantile malignant autosomal recessive form. Both types of mutations lead to disturbances of acidification needed for normal osteoclast function. We report a rare ocular finding in a rare case of malignant variety of osteopetrosis. A five month old girl child diagnosed as malignant variety of osteopetrosis with failure to thrive on fundus examination revealed chalky white optic discs with sharply demarcated borders bilaterally. Cranial neuropathies are caused due to improper bone remodeling leading to narrowing o] cranial nerve foramina and compression of nerves in skull foramina. Allogeneic hematopoietic stem cell transplantation is the only treatment known to significantly alter the course of disease. |
|---|---|
| ISSN: | 0972-0200 2454-2784 |