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.
  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.
Classification
External resources


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