Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitral valve prolapse (M.V.P.) is a noninflammatory degeneration of the mitral valve leaflets which results in a billowing of the redundant valve tissue toward the left atrium during the systolic phase. Mitral valve prolapse can be diagnosed by echocardiography or by auscultation where a characteristic mid-systolic click and late systolic murmur can be heard. Ophthalmic complications of MVP include chronic external progressive ophthalmoplegia and an association with keratoconus. In this case we present a case of a young woman who presented with sudden recurrent decrease in vision secondary to retinal arterioli emboli associated with the mitral valve prolapse syndrome.
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PMID:Mitral valve prolapse (Barlow's syndrome) and retinal emboli. 320 65

We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.
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PMID:Distal arthrogryposis type IIB: unreported ophthalmic findings. 1627 94