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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. Alacrima can be formally diagnosed through a Schirmer's test Schirmer's test determines whether the eye produces enough tears to keep it moist. This test is used when a person experiences very dry eyes or excessive watering of the eyes. It poses no risk to the subject. A negative (more than 10 mm of mo .... References External links Disorders of conjunctiva {{symptom-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Triple-A Syndrome
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 cases have been reported. The syndrome, is called triple aaa due to the manifestation of the illness which include achalasia (a dysfunction of the esophagus), addisonianism (adrenal insufficiency of primary type), and alacrima (insufficiency of tears). Alacrima is usually the earliest manifestation. Neurodegeneration or atrophy of the nerve cells and autonomic dysfunction may be seen in the disorder, therefore some have suggested the disorder be called 4A syndrome. It is a progressive disorder that can take years to develop the full-blown clinical picture. The disorder also has variability and heterogeneity in presentation. Presentation Individuals affected by AAA have adrenal insufficiency/Addison's disease due to ACTH resistance, alac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NGLY1 Deficiency
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in ''NGLY1''. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement disorder. NGLY1 deficiency is difficult to diagnose, and most individuals have been identified by exome sequencing. NGLY1 deficiency causes a dysfunction in the endoplasmic reticulum-associated degradation pathway. ''NGLY1'' encodes an enzyme, N-glycanase 1, that cleaves N-glycans. Without N-glycanase, N-glycosylated proteins that are misfolded in the endoplasmic reticulum cannot be degraded, and thus accumulate in the cytoplasm of cells. Signs and symptoms Four common findings have been identified in a majority of patients: developmental delay or intellectual disability of varying degrees, lack of or greatly reduced tears, elevate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schirmer's Test
Schirmer's test determines whether the eye produces enough tears to keep it moist. This test is used when a person experiences very dry eyes or excessive watering of the eyes. It poses no risk to the subject. A negative (more than 10 mm of moisture on the filter paper in 5 minutes) test result is normal. Both eyes normally secrete the same amount of tears. It is named for Otto Schirmer. Test procedure The test works by the principle of capillary action, which allows the water in tears to travel along the length of a paper test strip in an identical fashion as a horizontal capillary tube. The rate of travel along the test strip is proportional to the rate of tear production. The patient is instructed to look upward, and the patient’s eyelid is pulled down. The bent end of the test strip is placed in the eye such that it rests between the palpebral conjunctiva of the lower eyelid and the bulbar conjunctiva of the eye. Schirmer's test uses paper strips inserted into the eye ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
