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
SpecialtyOphthalmology
Differential diagnosisTriple-A syndrome

Alacrima can be formally diagnosed through a Schirmer's test.

References
  1. "NGLY1 Foundation". NGLY1 deficiency. Archived from the original on 2015-06-15. Retrieved 2015-01-26.
  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 3375064. 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 4243708. PMID 24651605.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.