Atlas of Ophthalmology

Macular Cherry-red Spot in Tay-Sachs Disease (Colour Photography, OD, OS)

Retina -> Congenital Abnormalities and Syndromes
Patient: 16 months of age, no fixation, no optokinetic nystagmus, skiascopy R +4,0-1,5/0°, L +3,0-1,0/0° Ocular Medical History: no fixation, inconstant nystagmus General Medical History: muscular hypotony, inconstant Babinski reflex, general retardation, periventricular dysmyelinisation, hepatomegaly, sequence analysis of GM2-AP-Gene revealed Tay-Sachs with variant AB (homocygot 3BP-deletion in exon #3 of GM2AP-gene (c.262_264DelAAG p.Lys88Del) Purpose: to present a cherry-red spot in the macular region in Tay-Sachs disease. Methods: Colour Photography. Findings: Colour Photography: cherry-red spot in the macular region of the fundus in OD and OS. Discussion: Disorders such as Tay-Sachs or Niemann-Pick disease are examples of dysfunction in sphingolipid metabolism and are typically associated with neurodegeneration and ocular findings. A cherry-red spot in the macular region of the fundus is the hallmark of the metabolic disorder known as Tay-Sachs disease. In sphingolipid storage diseases a macular cherry-red spot is the most common retinal pathology. Chen et al. (1) present a summary about sphingolipid-mediated neurodegenerative and inflammatory disorders. He reported, that sphingolipids are integral components of every cell membrane. Any imbalance of sphingolipids, such as ceramide (Cer), sphingosine (Sph), and their respective phosphorylated products (ceramide-1-phosphate (C1P), sphingosine-1-phosphate (S1P)) can alter the signaling for cell survival, cell growth, inflammation, senescence, and apoptosis. Literature: (1) Chen H, Chan AY, Stone DU, Mandal NA. Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders. Surv Ophthalmol.2014 Jan-Feb;59(1):64-76

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