TITLE

Ocular Manifestations of Chromosome 14 Terminal Deletion

AUTHOR(S)
Chung, Ida; Chawla, Radhika; FitzGerald, David E.
PUB. DATE
March 2006
SOURCE
Journal of Pediatric Ophthalmology & Strabismus;Mar/Apr2006, Vol. 43 Issue 2, p104
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.
ACCESSION #
20083282

 

Related Articles

  • Latanoprost plus brimonidine controls IOP. Groves, Nancy // Ophthalmology Times;6/1/2002, Vol. 27 Issue 11, p44 

    Reports on the combined regimen of latanoprost and adjunctive brimonidine for patients who need to achieve low intraocular pressure (IOP). Mean IOP reduction from latanoprost-treated baseline; Clinical success rates of dual therapy.

  • Urrets−Zavalia syndrome as a complication of ocular hypotonia due to intravenous cidofovir treatment. Soleimani, M; Tabatabaei, S A; Moghimi, S // Eye;Nov2014, Vol. 28 Issue 11, p1384 

    A letter to the editor is presented on UrretsÔZavalia syndrome as a complication of ocular hypotonia.

  • Response to Dr Soleimani. Orssaud, C; Wermert, D; Roux, A; Laccourreye, O; Sors, H; Roche, O; Dufier, J L // Eye;Nov2014, Vol. 28 Issue 11, p1385 

    A letter to the editor is presented in response to a previous article on UrretsÔZavalia syndrome as a complication of ocular hypotonia.

  • Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation. Yuksel, Adnan; Karaca, Ender; Albayram, M. Sait // Journal of Child Neurology;Jan2009, Vol. 24 Issue 1, p93 

    Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, and the kidney. It is an uncommon, X-linked disease. Bilateral cataract and severe hypotonia are present at birth. Psychomotor retardation is evident in childhood, while renal complications arise...

  • Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome. Shawky, Rabah M.; Elsayed, Nermine S.; Seifeldin, Neveen S. // Egyptian Journal of Medical Human Genetics;2012, Vol. 13 Issue 2, p233 

    Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild RTS. Our patient had mild mental...

  • Transpupillary thermotherapy trial shows promise for occult CNV. Groves, Nancy; Reichel, Elias // Ophthalmology Times;9/1/2004, Vol. 29 Issue 17, p10 

    Reports on the effect of experimental treatment transpupillary thermotherapy (TTT) for the treatment of choroidal neovascularization (CNV) in the U.S. Design of the experimental treatment to determine whether TTT alters the natural history of occult CNV; Details of information on TTT technique;...

  • Filtering procedure, antimetabolite pose risk of hypotony. Guttman, Cheryl; Bindlish, Rajiv // Ophthalmology Times;02/15/2001, Vol. 26 Issue 4, p38 

    States that eyes which underwent primary trabeculectomy with intraoperative mitomycin-C pose a high incidence of late hypotony. Description of hypotony; Incidence of blindness among eyes that sustained complications.

  • The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. Dalm, Virgil; Driessen, Gertjan; Barendregt, Barbara; Hagen, Petrus; Burg, Mirjam // Journal of Clinical Immunology;Nov2015, Vol. 35 Issue 8, p761 

    Background: Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports,...

  • Hyperemia is most common side effect of glaucoma therapy, interfering with adherence. Groves, Nancy // Ophthalmology Times;9/1/2007, Vol. 32 Issue 17, p20 

    The article provides information related to hyperemia, the side effect of glaucoma therapy interfering with adherence. In a study of 14,000 pharmacy claims for ocular hypotensive medications and other data, more than one-half of the patients discontinued their initial medication within 90 days...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics