Results 21 to 30 of about 12,123 (207)

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. [PDF]

Clin Genet
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Chesneau B, Willems M, Bouazzaoui A, Lequeux L, Plaisancié J, El Chehadeh S, Dollfus H, Chassaing N.   +7 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

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

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   +1 more source

Seronegative macular coloboma with multifocal choroiditis

Indian Journal of Ophthalmology. Case Reports, 2022
Macular coloboma is a rare and distinct entity thought to be a consequence of a developmental abnormality or a resolved inflammation secondary to intrauterine or postnatal infection. Acquired macular scars are usually post-inflammatory scars secondary to
Mousumi Banerjee, Akshat Sharma, Shorya V Azad, Pradeep Venkatesh   +3 more
doaj   +1 more source

A Typical Lens Coloboma – A Rare Cause of Childhood Blindness

Delhi Journal of Ophthalmology, 2011
A lens coloboma is a rare congenital anomaly characetrised by its nothching at the eguator occurring generally at the site of embryonic fissure i.e. inferonasally. Superior Lens Coloboma is rare ocular finding.
Punita Garg, Parul Aggarwal, H.K Sidhu
doaj   +1 more source

Is it a coloboma or not? A new definition for isolated lens coloboma: focal zonular dysgenesis

The Pan-American Journal of Ophthalmology, 2023
Purpose: Ocular coloboma is defined as a congenital malformation caused by defective closure of the fetal fissure, resulting in a notch in any structure.
Nicole B Larivoir, Paula M Marinho, Ivan C Teixeira, Gabriel B De Figueiredo, Rodrigo A B. Fernandes, Lincoln L Freitas   +5 more
doaj   +1 more source

Achondroplasia and macular coloboma

Middle East African Journal of Ophthalmology, 2015
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy.
Ahoor, M. H., Amizadeh, Y., Sorkhabi, R.
openaire   +3 more sources

Bilateral Macular Coloboma: A Rare Entity

Delhi Journal of Ophthalmology, 2022
A macular coloboma is rare, congenital entity characterized by round or oval area of chorioretinal atrophy of variable size at the macula. A 20-year-old male visited to out patient department with a complain of poor vision in both eyes. Patient underwent
Rajlaxmi Virkar, Amit S. Nene, Onkar H. Pirdankar, Madhuri Meshram, Pushpanjali Badole, Smitesh Shah   +5 more
doaj   +1 more source

Superior coloboma.

, 2018
Montage from patients with superior coloboma (numbers represent patients described in S1 Table). #1: unilateral superior iris coloboma. #2: first panel, asymmetrically-sized iris defects with bilateral pupil involvement, left eye shown; second panel ...
Seema Agarwala (4925746), Jennifer C. Hocking (4925749), Kevin H. Yoon (4925731), Ordan J. Lehmann (121186), Adi Inbal (4925737), Cassidy S. Bernstein (4925734), Andrew J. Waskiewicz (4925743), Jakub K. Famulski (231958), Omri Weiss (3826378), Sonya A. Widen (3353729), Sophie Koch (4925740)   +10 more
core   +1 more source