Toxic Cholesterol Accumulation Related to Niemann–Pick Disease Type C

Thanks to everyone who showed interest in the section of question of the month and answered the question. In this month’s question, identify the OCT finding in this young male patient with lysosomal storage disease was desired.

The answer to the question is ‘Toxic cholesterol accumulation related to Niemann–Pick disease type C. The result of the lottery among those who answered the question correctly, the winner of this month’s book prize is Danilo Biondino, MD. Congratulations to him.

Niemann–Pick disease type C (NPC) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. Bright cherry-red fovea centralis surrounded by a white or pale macula related to toxic cholesterol accumulation in the ganglion cell layer.  

Havla J, et al. Retinal axonal degeneration in Niemann–Pick type C disease. J Neurol. 2020; 267(7): 2070–2082.

 Danilo Biondino, MD

University of Salerno, Italy

Dr. Danilo Biondino is graduated from Salerno University in 2019. He is currently continuing his residency in Ophthalmology at the Salerno University. “The Effect of Fluid Challenge Test on Optic Nerve Sheath Diameter, Optic Nerve Sheath Diameter Measurement by Ultrasound after Moderate Traumatic Brain Injury and Effect of Interscalene Brachial Plexus Block on Intracranial Pressure: Are the Measures of Optic Nerve Sheath Diameter Standardised with B-Scan?” are his main articles.



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