Results 71 to 80 of about 13,016 (165)

A rare occurrence of superior retinochoroidal coloboma: A case report

open access: yesIndian Journal of Ophthalmology. Case Reports
Purpose: To brief a rare case of superior retinochoroidal coloboma and to analyze the possible embryogenic aspects involved in its provenance. Method: A case report.
Sayan Mukerjee   +2 more
doaj   +1 more source

Anterior coloboma with macrophthalmos and cyst MR findings

open access: yes, 2005
Coloboma is one of the congenital ocular malformations presenting important diagnostic and therapeutic problems, especially in infants. Coloboma can be associated with microphthalmia frequently and macrophtalmia rarely.
Aribal, E, Toker, E, Ogut, MS, Altun, E
core   +2 more sources

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

open access: yesClinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon   +9 more
wiley   +1 more source

Prevalences of Known and Presumed Inherited Eye Diseases in Pugs in Germany

open access: yesVeterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT The aim of this retrospective study was to describe the prevalence and distribution of presumed inherited eye diseases in pugs in Germany and to evaluate potential risk factors for selected diseases. Therefore, ophthalmic findings from 294 pugs provided by the German panel of the European Eye Scheme programme were analyzed retrospectively ...
Carolin Lemle   +2 more
wiley   +1 more source

Unilateral coexistent optic pit and choroidal coloboma

open access: yes, 2002
A 48-year-old diabetic woman was referred to us for retinopathy screening. Visual acuity was 20/20 with a refraction of -8.00 in each eye. Fundoscopy of the left eye revealed an inferotemporal optic pit and inferior typical retinochoroidal coloboma ...
Saatci, ALİ OSMAN   +2 more
core   +1 more source

Iris coloboma

open access: yesPAMJ Clinical Medicine, 2020
Coloboma is an eye abnormality that occurs during embryogenesis, it is a congenital defect typically presenting as a gap, hole or absent tissue in eye structures at a site consistent with aberrant closure of the optic fissure.
Karim Amhoud, Amina Berraho
doaj   +1 more source

Coloboma of the optic disc: a case report

open access: yesJournal of Ophthalmology, 2019
Clinical manifestations of coloboma and a pit of the optic disc are variable, which conditions the need for differentiated diagnosis of this rare pathology and proper treatment.
N.V. Konovalova   +3 more
doaj   +1 more source

Atypical superior iris and chorioretinal coloboma

open access: yesIndian Journal of Ophthalmology, 2022
Shweta Parakh   +4 more
doaj   +1 more source

Choroidal neovascularization associated with coloboma of the choroid: A series of three cases

open access: yesIndian Journal of Ophthalmology, 2011
Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma.
Bhende Muna   +5 more
doaj  

Walsh & Hoyt: Optic Disc Coloboma

open access: yes, 2005
The term coloboma, of Greek derivation, means curtailed or mutilated. It is used only with reference to the eye. According to Mann, colobomas of the optic disc result from incomplete or abnormal coaptation of the proximal end of the embryonic fissure ...
Michael C. Brodsky, MD
core   +1 more source

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