Variation of cherry-red spot in Niemann-Pick disease: a clinical case report
Medical Review (Med. pregled), 2023, 59(4), 60-62.
A. Oscar1,2, S. Slavchev1, P. Impagliatelli1, E. Lazarova3, G. Markov1, G. Dimitrova1,2
1 Eye Clinic, University Alexandrovska Hospital – Sofia
2 Department of Ophthalmology, Medical University – Sofia
3 Gastroenterology Clinic, Specialized Children Diseases Hospital ‘Prof. Ivan Mitev’ – Sofia
Abstract. Niemann-Pick disease is an autosomal recessive lysosomal storage disease caused by acid sphingomyelinase deficiency, which catalyzes the hydrolysis of sphingomyelin. A cherry-red spot refers to a red-colored region at the center of the macula surrounded by retinal opacification. The presence of a cherry-red spots in the ocular fundus in Niemann–Pick disease is a result of accumulation of lipid material in the retinal ganglion cells. The purpose of the article is to present the ocular manifestation in a patient diagnosed with Niemann-Pick disease. A 16-year-old boy with Niemann-Pick disease referred for consultation in the Eye Clinic of University Hospital Alexandrovska – Sofia, by the Pediatric Hospital “Prof. Ivan Mitev”, underwent a complete ophthalmologic examination, as a rare form of cherry-red spot in the ocular fundus of both eyes was observed. Visual acuity was 0.6 bilaterally, and there were no other pathologic findings. Active interdisciplinary collaboration is crucial for better understanding of the disease control and progression.
Key words: Niemann-Pick disease, cherry-red spot, macular halo
Address for correspondence: Assoc. Prof. Georgi Markov, MD, e-mail: dr.georgimarkov@gmail.com