Findings on Optical Coherence Tomography in Malignant Infantile Osteopetrosis

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Malignant infantile osteopetrosis (MIOP) is a rare inherited disorder.
• Neurological complications and reduced life expectancy are characteristic of MIOP.
• Vision loss in MIOP is often linked to optic nerve compression.

Purpose of the Study:

• To investigate potential mechanisms of vision loss in malignant infantile osteopetrosis.
• To report fundus imaging, optical coherence tomography (OCT), and OCT angiography findings in MIOP.
• To provide insights into the pathophysiology of visual impairment in this rare condition.

Main Methods:

• Fundus imaging was performed.
• Optical coherence tomography (OCT) was utilized.
• OCT angiography was employed for detailed vascular assessment.

Main Results:

• Imaging revealed optic nerve pallor.
• Subfoveal ellipsoid zone disruption was observed.
• An enlarged foveal avascular zone was detected.

Conclusions:

• Vision loss in MIOP may involve additional mechanisms beyond optic nerve compression.
• OCT and OCT angiography provide valuable insights into retinal changes in MIOP.
• These findings contribute to understanding the complex visual complications of this rare disorder.