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

The analysis of twenty-one observations with Peter Syndrome, shows that the disease was established by a disorder in the development of the mesoderm who gives birth at the posterior, stratum of cornea, iris stroma and angle of the posterior chamber. The disease was associated with cataract (nine cases), strabismus (seven cases), congenital glaucoma (five cases), microophthalmia (three cases), microcornea (four cases), remainders of the pupillary membrane (one case), vitreous opacities (one case), facial malformations (one case), congenital dacryocystitis (one case), nystagmus (four cases). The presence at the same patient of the posterior keratoconus or staphiloma of cornea at one eye and Peter syndromme at the other eye, is possible to say that these diseases are evolutionary stages by one and the same mesodermal disgenesia.
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PMID:[Ocular manifestations in Peters' syndrome]. 871 80

The common ocular manifestations of CHARGE syndrome include colobomatous defects in the eye, strabismus, nystagmus, and micropthalmia. Lacrimal drainage anomalies have been rarely reported and to the best of the authors' knowledge, only 5 such cases have been reported earlier. The present case describes CHARGE syndrome associated with bilateral complex congenital nasolacrimal duct obstruction with multiple prior attacks of acute dacryocystitis and left lower punctal agenesis, successfully managed with a right-sided dacryocystorhinostomy and awaiting a left dacryocystorhinostomy.Lacrimal drainage anomalies in CHARGE syndrome include complex CNLDO, punctal agenesis, and acute dacryocystitis.
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PMID:Lacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature. 3159 46