Results 61 to 70 of about 10,294 (182)
Defining the Sequence Elements and Candidate Genes for the Coloboma Mutation
PLoS ONE, 2013 The chicken coloboma mutation exhibits features similar to human congenital developmental malformations such as ocular coloboma, cleft-palate, dwarfism, and polydactyly.
Elizabeth A. Robb +2 more
doaj
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
Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 258-262, January 2026.
Muhammad Othman +2 more
wiley +1 more source
International Medical Case Reports JournalTawfiq Ahmad Mushkani, Zabih Ur Rahman Roheen Ophthalmology Department, Kabul University of Medical Science, Kabul, AfghanistanCorrespondence: Tawfiq Ahmad Mushkani, Email tawfiqarashmushkani@gmail.comBackground: Coloboma means curtailed in Greek ...
Mushkani TA, Roheen ZUR
doaj
CONGENITAL UPPER lid COLOBOMA [PDF]
Australian and New Zealand Journal of Ophthalmology, 1986 AbstractTwenty‐two patients with congenital upper lid colobomas were assessed Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media A traction test is strongly recommended early in all children with congenital upper lid colobomas A lateral cantholysis and ...
openaire +2 more sources
Selection of surgical technique for retinal detachment with coloboma of the choroid
Indian Journal of Ophthalmology, 1994 Four eyes with rhegmatogenous retinal detachment and coloboma of the choroid were managed by conventional scleral buckling (one eye); scleral buckling combined with lensectomy, vitrectomy, and fluid-air exchange (two eyes); and vitrectomy, silicone oil ...
Jalali Subhadra, Das Taraprasad
doaj
Revista Cubana de Oftalmología, 2012 Se presentan las características oftalmológicas de tres pacientes, dos hermanos varones y su padre con diagnóstico de distrofia macular de North Carolina. Este es un trastorno genético que produce degeneración macular congénita o de inicio precoz.
Mavys Soto García +5 more
doaj
Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family
Molecular Genetics & Genomic MedicinePurpose To characterize the phenotype and genotype of a Chinese family with autosomal‐dominant retinitis pigmentosa (RP) accompanied by iris coloboma.
Zhang Lei +6 more
doaj +1 more source
Fibrin-glue-assisted retinopexy for coloboma-associated retinal detachment
Indian Journal of OphthalmologyBackground: Retinal detachment (RD) is common (23%–40%) in eyes with uveal coloboma due to early vitreous syneresis, inherent defects at the locus minoris resistentiae, and breaks in intercalary membrane (ICM).[1] Managing eyes with coloboma RD is ...
K Shreeya Jain +2 more
doaj +1 more source