Neuroimmunology
Chediak-Higashi syndrome
May. 14, 2024
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Wide-angel fundus autofluorescence in a man with mucolipidosis type III gamma (2)
In this 47-year-old man with mucolipidosis type III gamma, the center is well bounded. There is pathological patchy hypoautofluorescence in the middle periphery and more homogenous hyperautofluorescence peripherally. (Source: de Geer K, Mascianica K, Naess K, Sardh E, Lindstrand A, Björck E. Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report. BMC Ophthalmol 2023;23[1]:394. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)