Results 11 to 20 of about 13,016 (165)

Nasopalpebral lipoma coloboma syndrome

Indian Journal of Ophthalmology, 2011
Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome.
N Suresh Babu, D Raviprakash, Ravi Kumar
doaj   +2 more sources

Systemic and Ophthalmologic Findings in Patients with Iris Coloboma

Türk Oftalmoloji Dergisi, 2013
Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Sevda Ertekin, İdil Göksel, Nurgül Kuş, Ayşe Ayça Sarı   +3 more
doaj   +2 more sources

Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis [PDF]

Journal of Optometry, 2009
A lens coloboma is characterized by the lens tissue's notching at the equator. It is usually inferior-nasal else it is called an atypical coloboma. We report a young male who presented with a superior lens coloboma, an elevation deficit and moderate ...
Jitendra Jethani, Vishal R. Sharma, Kenshuk Marwah   +2 more
doaj   +2 more sources

Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma [PDF]

Case Reports in Ophthalmology, 2018
Purpose: To report a case of polypoidal choroidal vasculopathy associated with optic disc coloboma. Methods: Case report. Results: A 50-year-old woman presented with optic disc coloboma and retinochoroidal coloboma associated with subretinal hemorrhage ...
Yumiko Nakano, Akiko Miki, Shigeru Honda, Makoto Nakamura   +3 more
doaj   +2 more sources

Bilateral Iris Coloboma in an 11-Year-Old Child with Low Vision and High Intraocular Pressure: A Rare Case Report and Review of Literature

International Medical Case Reports Journal
Tawfiq 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   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

Journal of Ophthalmology, 2020
Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited.
Bin Li, Bin Lu, Xuewen Guo, Shenghui Hu, Guihu Zhao, Weihong Huang, Jianzhong Hu, Kun Song   +7 more
doaj   +1 more source

DNA variation in the SNAP25 gene confers risk to ADHD and is associated with reduced expression in prefrontal cortex [PDF]

, 2013
This work was part funded by the MRC.Background: The Coloboma mouse carries a similar to 2 cM deletion encompassing the SNAP25 gene and has a hyperactive phenotype similar to that of ADHD.
Matthews, Natasha, Vance, Alasdair, Joseph Wagner, Kent, L, Ziarih Hawi, Robyn H Wallace, Gill Michael, Natasha Matthews, Alasdair Vance, Butler, Tim J., Butler, TJ, Matthews Natasha, Wallace Robyn H., Kent Lindsey, Hawi Ziarih, Tim J Butler, Lindsey Kent, Wagner Joseph, Hawi, Z, Bellgrove Mark A., Hawi, Ziarih, Butler Tim J., Matthews, N, Wagner, Joseph, Bellgrove, MA, Vance, A, Kent, Lindsey, Gill, Michael, Wallace, Robyn H., Vance Alasdair, Wagner, J, Mark A Bellgrove, Wallace, RH, Michael Gill, Bellgrove, Mark A., Gill, M   +35 more
core   +2 more sources

Abnormal latent inhibition and impulsivity in coloboma mice, a model of ADHD

Neurobiology of Disease, 2007
Attention deficit hyperactivity disorder (ADHD) is characterized by hyperactivity, inattention, and impulsivity. The coloboma mouse model of ADHD exhibits profound hyperactivity. To determine whether coloboma mice exhibit other signs of ADHD, we assessed
Kristy J. Bruno, Christopher S. Freet, Robert C. Twining, Kiyoshi Egami, Patricia S. Grigson, Ellen J. Hess   +5 more
doaj   +1 more source

Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder

Indian Journal of Radiology and Imaging, 2023
Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome.
S. Shanmuga Jayanthan, Rajagopal Ganesh, Narayanan Karunakaran, T. Mukuntharajan, A. Nancy Manodoss, Karan Dedhia, K. Nadanasadharam   +6 more
doaj   +1 more source