Alacrima
| Alacrima |
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Alacrima refers to an abnormality in tear production that could mean reduced tear production or absent tear production. Because a lack of tears presents in only in a few rare disorders, it aids in diagnosis of these disorders, including Triple-A syndrome and NGLY1 deficiency.[1][2][3]
Alacrima can be formally diagnosed through a Schirmer's test.
References
- ^ "NGLY1 Foundation". NGLY1 deficiency.
- ^ Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (May 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". J Med Genet. 49 (6): 353–61. doi:10.1136/jmedgenet-2012-100819. PMC 3375064. PMID 22581936.
- ^ Enns GM, Shashi V, Bainbridge M, et al. (March 2014). "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway". Genet. Med. 16 (10): 751–8. doi:10.1038/gim.2014.22. PMC 4243708. PMID 24651605.
External links
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