Results 61 to 70 of about 1,661,396 (150)
Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
, 2008 We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康 +1 more
core
Bilateral iris, lens and Chorioretinal Coloboma: A Case Report
, 2018 Colobomas are genetic malformations due to lack of closure of the embryonic fissure. These are rare malformations that can sit at any level of the eye. Colobomas can be uni or bilateral, sporadic or hereditary.
Mohamed Abdallahi Ould Hamed +1 more
core +1 more source
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Experimental and Molecular Medicine, 2018 Hereditary eye disease: Looking for blindness in the family tree In-depth genomic analysis of the family of a young man with severe visual impairment reveals a new gene involved in eye development. Ocular coloboma encompasses various hereditary disorders
Xiu-Feng Huang +13 more
doaj +1 more source
, 2007 International audienceOBJECTIVE: To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene. METHODS: We investigated a 4-generation French family with autosomal dominant cataract and performed a ...
Denis, Philippe +5 more
core +1 more source
Surgical Management and Scheimpflug Analysis of an Atypical Lens Coloboma
Case Reports in Ophthalmology, 2012 A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas.
Julio C. Hernadez-Camarena +3 more
doaj +1 more source
CONGENITAL LENS COLOBOMA AND ASSOCIATED PATHOLOGIES
, 1993 Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no ...
core +1 more source
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.
PLoS ONE, 2013 PurposeThe paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia.
Hong Guo +4 more
doaj +1 more source
Borrador del Mapa y Programa de las Jornadas Arco Iris de 1992
, 1992 Borrador del Mapa y Programa de las Jornadas Arco Iris con fecha de noviembre de ...
Grupo Arco Iris
core
Retinal detachments associated with choroidal colobomas
Taiwan Journal of OphthalmologyTo summarize the characteristics of the retinal detachments (RDs) that are associated with choroidal colobomas that occur in pediatric and adult patients.
Makoto Inoue
doaj +1 more source
Lista de invitados para el almuerzo de las Jornadas Arco Iris
, 1992 Lista de invitados para el almuerzo de las Jornadas Arco ...
Grupo Arco Iris, Partido Andalucista
core