Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bardet-Beidl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by dysmorphic distal extremities, obesity, renal abnormalities, hypogenitalism, and varying degrees of mental retardation. Other less common abnormalities are cardiac and hepatic diseases, anal atresia, cerebellar dysfunction, and, in rare cases, nystagmus. This is a report of a child with Bardet-Biedl syndrome who presented at 15 months of age with a horizontal and rotary nystagmus as the initial sign of this disorder.
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PMID:Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age. 1150 89

A 29-year-old man with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, and limb defects (VACTERL) presented with headache, photophobia, and worsening nystagmus. He had near-normal visual acuity and visual fields, absent stereopsis, and see-saw nystagmus. Brain MRI revealed a thin remnant of the optic chiasm but normal-sized optic nerves. Functional MRI during monocular visual stimulation demonstrated non-crossing of the visual evoked responses in the occipital cortex, confirming achiasma. These findings have not previously been reported in VACTERL.
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PMID:Congenital achiasma and see-saw nystagmus in VACTERL syndrome. 2018 7