Results 21 to 30 of about 13,016 (165)
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 +3 more
doaj +1 more source
Iris coloboma, apresentação do caso [PDF]
, 2020 Introduction: the coloboma is a birth defect of the lower sector of the iris or a neckline in the pupil margin that gives the pupil a locking appearance.Case presentation: The case of a 53-year-old male patient with clinical diagnosis of iris coloboma in
Gutiérrez Núñez, Rafael +3 more
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Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
Journal 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
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 +5 more
doaj +1 more source
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]
Mol Genet Genomic MedUsing whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Fan F, Chen Y, Zhang T, Ma J.
europepmc +2 more sources
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
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 +5 more
doaj +1 more source
Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report
Indian Journal of Plastic Surgery, 2023 The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas ...
Ved Prakash Rao Cheruvu +3 more
doaj +1 more source
, 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) +10 more
core +1 more source
, 2023 Coloboma is a term used to describe defects seen in various ocular structures due to incomplete embryologic development. Fundus coloboma specifically is due to failure of the embryonal fissure to close, which typically occurs by 5-7 weeks gestation ...
Kirstyn Taylor; Drew Scoles, MD
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