نتایج جستجو برای: ocular defect

تعداد نتایج: 149945  

Journal: :Pediatrics 2013
Francesca G Iodice Luca Di Chiara Sara Boenzi Chiara Aiello Lidia Monti Paola Cogo Carlo Dionisi-Vici

Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The neurologic findings are common and include...

2014

Loss of eye has a bad effect on the psychology of the patient. Eye prosthesis is fabricated to regain the patient’s confidence by meticulous replacement of the missing eye. Immediate fitting of an anophthalmic socket with an artificial eye may not always be possible, and a delayed prosthesis delivery may result in settling and sinking of the prosthesis into the socket, therefore requiring orbit...

2005
Tsung-Jen Wang Jieh-Ren Jou Lin-Chung Woung Yung-Feng Shih Luke L-K Lin

Objective: Intracranial dural arteriovenous fistulas (AVFs) account for 10%-15% of all intracranial arteriovenous lesions. Some dural AVFs produce ocular symptoms include proptosis, diplopia, episcleral venous engorgement, periorbital swelling, extraocular muscle limitation, visual field defect, and papillaedema. Materials and Methods: We reviewed four patients who had dural AVFs with ophthalmi...

2014
Daniel Kelberman Lily Islam Jörn Lakowski Chiara Bacchelli Estelle Chanudet Francesco Lescai Aara Patel Elia Stupka Anja Buck Stephan Wolf Philip L. Beales Thomas S. Jacques Maria Bitner-Glindzicz Alki Liasis Ordan J. Lehmann Jürgen Kohlhase Ken K. Nischal Jane C. Sowden

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably af...

Journal: :American journal of clinical pathology 1981
R Valenzuela W A Morningstar

The ultrastructure of the ocular pigment abnormality of human Chédiak-Higashi syndrome is described. The presence of giant abnormal melanosomes, probably the end result of the fusion of smaller abnormal organelles, was the most striking pathologic finding. This defect involved both optic cup and neural crest-derived melanocytes; the former were affected more severely. Giant lysosome-like organe...

M.R Meshkat S Sanjari Y Nikiyan

Amblyopia is an acquired defect in ocular vision that is due to abnormal visual acuity which can be unilateral of bilateral,and can not be directly related to structural defects or optic radiation.Amblyopia can be effectively treated during the first decade of lift in most cases.for this reason in a cross sectional study in 1996 with multistage random sampling 1726 students in age 7-8 years old...

1997
Susan Ewart

Anterior segment dysgenesis syndrome is an inherited ocular defect in Rocky Mountain Horses. The disease is Mendelian with semidominant inheritance. Heterozygous animals have ciliary cysts, and homozygous animals have complex anterior segment dysgenesis. Authors’ address: Depts. of Large Animal Clinical Sciences (Ewart) and Small Animal Clinical Sciences (Ramsey), D202 Veterinary Medical Center...

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