Articles with "mactel2" as a keyword



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Henle Fiber Layer Hemorrhage in Macular Telangiectasia Type 2: Is Right Eye Dominance Coincidence or Consequence?

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Published in 2022 at "American journal of ophthalmology"

DOI: 10.1016/j.ajo.2022.04.002

Abstract: PURPOSE To summarize all reported cases of Henle fiber layer (HFL) hemorrhage in the absence of subretinal neovascularization (SRNV) in patients with macular telangiectasia type 2 (MacTel2) and to propose a mechanism for the right… read more here.

Keywords: right eye; mactel2; hfl hemorrhage; henle fiber ... See more keywords
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Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

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Published in 2023 at "Genes"

DOI: 10.3390/genes14040931

Abstract: Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral neuropathy most commonly associated with pathogenic variants in the serine palmitoyltransferase complex (SPTLC1, SPTLC2) genes, which are responsible for sphingolipid biosynthesis. Recent reports have… read more here.

Keywords: hsan1; mactel2; type mactel2; telangiectasia type ... See more keywords