Alacrima

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

  1. ↑ "NGLY1 Foundation". NGLY1 deficiency.
  2. ↑ 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 3375064Freely accessible. PMID 22581936.
  3. ↑ 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 4243708Freely accessible. PMID 24651605.


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