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X-linked myotubular myopathy (XLMTM) is a rare, congenital, centronuclear myopathy with an estimated global incidence of 1 in 50,000 male births [1, 2]. Muscle weakness is the defining characteristic of the disease, which is caused by pathogenic variants in the MTM1 gene, resulting in lack or dysfunction of the protein myotubularin required for normal development, maturation and maintenance...
Souza Paulo Victor Sgobbi et al.
Orphanet Journal of Rare Diseases 2024; 19(1): 188
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Souza Paulo Victor Sgobbi et al.
Orphanet Journal of Rare Diseases 2024; 19(1): 188
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Fuchs uveitis syndrome (FUS), also known as Fuchs Heterochromic Iridocyclitis (FHI), is typically a unilateral slow progressive chronic anterior uveitis characterized by white, diffuse stellate keratic precipitates (KP) on the corneal endothelium. Other characteristics of this condition are as follows: mild anterior chamber reaction, lack of posterior synechia, anterior vitreous disorders, and iris...
Kianersi Farzan et al.
BMC Ophthalmology 2024; 24(1): 283
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Kianersi Farzan et al.
BMC Ophthalmology 2024; 24(1): 283
Lire la suite
