Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-year-old man with a longstanding history of impaired visual acuity, strabismus, broad-based gait, and below-average intellectual capacity developed respiratory difficulties and intermittent generalized weakness at age 19. He subsequently showed signs of massive brainstem dysfunction and died. Postmortem examination demonstrated changes compatible with subacute necrotizing encephalomyelopathy of Leigh involving portions of the diencephalon, midbrain, pons, and medulla as well as portions of the spinal cord and optic nerves. Evaluation of family members for presence of the urinary inhibitor factor for thiamine diphosphate phosphoryl transferase revealed abnormal levels in a brother, a maternal uncle, and the maternal grandfather of the patient.
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PMID:Leigh's disease in an adult with evidence of "inhibitor factor" in family members. 20 25

A 21-year-old patient is presented in whom striking regression of congenital sutural cataracts and progression of lamellar cataracts were documented photographically over an 18-year period. These unexplained findings are at variance with the prevailing impression that congenital nuclear and sutural cataracts are stationary in postnatal life.
J Pediatr Ophthalmol Strabismus
PMID:The natural history of congenital sutural cataracts. Case report with long-term follow-up. 709 61

Upbeat nystagmus is a vertical jerk nystagmus present in the primary position with a fast upward phase. It is to be distinguished from gaze-evoked upbeating nystagmus which is not present in the primary position, but is elicited only on upgaze. Drug toxicity commonly causes gaze-evoked upbeating nystagmus but rarely primary position upbeat nystagmus. A 21-month-old white girl swallowed Dermaton, an organophosphate pesticide, and developed primary position upbeat nystagmus, RBC and plasma cholinesterase levels were markedly depressed, confirming organophosphate poisoning. When the youngster was treated with intravenous atropine, the nystagmus quickly resolved.
J Pediatr Ophthalmol Strabismus
PMID:Primary position upbeat nystagmus with organophosphate poisoning. 715 25

A 21-year-old man had abnormal adducting movements of his left eye on mastication. This suggested an anomalous innervation of the medial rectus muscle from the motor branch of the trigeminal nerve that innervated the external pterygoid muscle.
J Pediatr Ophthalmol Strabismus
PMID:Congenital unilateral adduction associated with jaw movement: a rare variant of trigemino-oculomotor synkinesis. 1520 3

A 21-year-old man with Kenny-Caffey syndrome had been observed since 1993 for hyperopia. Fundus examination revealed swollen optic disks. Further examinations (fluorescein angiography, B-scan ultrasonography, and optical coherence tomography) confirmed the optic nerve head elevation. The authors report a rare case of Kenny-Caffey syndrome with extreme pseudopapilledema. Although uncommon, ophthalmologists should be mindful of this disorder when a patient presents with characteristic findings because severe electrolyte disturbances may complicate the clinical course.
J Pediatr Ophthalmol Strabismus 2011
PMID:Pseudopapilledema in Kenny-Caffey syndrome. 1979 16