Results 11 to 20 of about 10,524 (180)

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

open access: yesJournal 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   +7 more
doaj   +1 more source

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

open access: yesNeurobiology 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   +5 more
doaj   +1 more source

Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis

open access: yesJournal 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   +2 more
doaj   +1 more source

Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder

open access: yesIndian 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   +6 more
doaj   +1 more source

Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma

open access: yesJournal of the Formosan Medical Association, 2007
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
Muh-Shy Chen   +4 more
doaj   +1 more source

Seronegative macular coloboma with multifocal choroiditis

open access: yesIndian 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   +3 more
doaj   +1 more source

A Typical Lens Coloboma – A Rare Cause of Childhood Blindness

open access: yesDelhi 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

Achondroplasia and macular coloboma

open access: yesMiddle 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

Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma

open access: yesCase 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   +3 more
doaj   +1 more source

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

open access: yesThe 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   +5 more
doaj   +1 more source

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