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)

Crouzon's syndrome is an autosomal dominant disorder characterized by premature craniosynostosis leading to multiple ocular abnormalities and vision loss. Strabismus, optic atrophy, exposure keratitis, hypertelorism, nystagmus, and unexplained visual loss have been reported. Keratoconus has been described only once previously in a patient with other ocular abnormalities. This article reports bilateral keratoconus in a patient with Crouzon's syndrome without other ocular pathology. We emphasize the importance of early recognition and therapy of this treatable cause of decreased vision in Crouzon's syndrome.
Cornea 1994 Jan
PMID:Bilateral keratoconus in Crouzon's syndrome. 813 12

Congenital coloboma of eyelid is a rare anomaly. There is partial or total absence of eyelid structures. A seven year male child had coloboma of both the upper lids lateral to lacrimal puctum affecting the medial half of lid symmetrically with symblepharon in region of defect bilaterally. The study was carried out at Maharaja Krushna Chandra Gajpati Medical College Berhampur, Odisha in year 2010. Both eyebrows were abnormal. He presented on and off diminution of vision, burning sensation, redness and watering from both the eyes on and off. On examination high refractive error was detected (visual aquity was 6/18 in righteye and 6/24 in left eye). Cornea was dry and opacities were present in both the eyes. There was limitation of ocular movement in both sides due to symblepharon. Nystagmus was present. The subject did not have any other associated anomaly. The birth and family history was normal. This case can be surgically treated and earliest management can give good fuctional as well as cosmetic results.
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PMID:Congenital Bilateral Coloboma of Upper Eyelid. 2933 27