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)

Amblyopia can result from strabismus, anisometropia, media opacities, and congenital disorders such as nystagmus. Complicated forms of ptosis (ie, associated with neurofibroma or hemangioma) are also known to cause amblyopia. A previously unconfirmed cause of amblyopia is uncomplicated ptosis. We carefully examined 123 consecutive surgical ptosis patients with uncomplicated congenital or early acquired ptosis. Twenty-five cases of amblyopia (20%) were seen. Four cases (3.2%) were thought to be caused by the ptosis. In two of these cases (1.6%), the amblyopia was directly attributed to the ptosis. In one of the remaining two cases, exotropia and amblyopia developed on the ptotic side while the patient was being observed for the ptosis. In another patient, a progressively increasing cylindrical refractive error and amblyopia developed, which were attributed to the ptosis. We recommend careful evaluation of cases of congenital ptosis for the detection and treatment of amblyopia.
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PMID:Amblyopia in ptosis. 738 10

Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital-facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas.
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PMID:Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. 2725 70