Results 51 to 60 of about 10,294 (182)

Organ‐Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review

Congenital Anomalies, Volume 66, Issue 1, January/December 2026.
ABSTRACT The role of alcohol‐induced epigenetic modifications that predispose the fetus to metabolic dysregulation, increased susceptibility to future substance use, and long‐term behavioral and cognitive impairments has received increasing attention.
Rana Nur Gursu, Dilan Cetinavci, Hulya Elbe   +2 more
wiley   +1 more source

Retinal detachments associated with choroidal colobomas

Taiwan Journal of Ophthalmology
To summarize the characteristics of the retinal detachments (RDs) that are associated with choroidal colobomas that occur in pediatric and adult patients.
Makoto Inoue
doaj   +1 more source

Late-Onset Subretinal Silicone Oil Migration through Optic Disc Coloboma

Case Reports in Ophthalmology
Introduction: This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.
Or Shmueli, Tareq Jaouni
doaj   +1 more source

Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye

Advanced Biomedical Research, 2016
Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic.
Ali Reza Dehghani, Leila Rezaei, Heshmatollah Ghanbari   +2 more
doaj   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

PLoS Genetics, 2015
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained.
Brett Deml, Ariana Kariminejad, Razieh H R Borujerdi, Sanaa Muheisen, Linda M Reis, Elena V Semina   +5 more
doaj   +1 more source

Coloboma of the optic disc: a case report

Journal 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, N.I. Khramenko, S.B. Slobodyanyk, O.V. Guzun   +3 more
doaj   +1 more source

Atypical superior iris and chorioretinal coloboma

Indian Journal of Ophthalmology, 2022
Shweta Parakh, Shrutanjoy Das, Shrey Maheshwari, Gaurav Luthra, Saurabh Luthra   +4 more
doaj   +1 more source

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

Indian 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, Suganeswari G, Gopal Lingam, Bhende Pramod, Gopal Lekha, Rao Chetan   +5 more
doaj  

Iris coloboma

PAMJ 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