Developmental Malformations
22q11.2 deletion syndrome
Mar. 22, 2024
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Wide-angle fundus photography in man with mucolipidosis type III gamma
In this 47-year-old man with mucolipidosis type III gamma, there is blunting of the foveal contour and scattered pigmentary changes in the middle periphery in the form of discrete bone spicules and pigment clumping. (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.)