Results 11 to 20 of about 10,524 (180)
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
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Abnormal latent inhibition and impulsivity in coloboma mice, a model of ADHD
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
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Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis
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
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
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
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Seronegative macular coloboma with multifocal choroiditis
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
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
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
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
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

