Results 61 to 70 of about 431,527 (189)

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 991-1004, November 2026.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Glaucomatous optic nerve damage in the contralateral eye of a patient with peripapillary retinoschisis: a case report

BMC Ophthalmology, 2023
Background Peripapillary retinoschisis (PPRS) is often associated with glaucomatous eyes. It usually occurs in eyes with a more advanced stage of glaucoma with obvious optic nerve damage. We report a patient who was found to have PPRS in one eye during a
Wenbo Zhang, Tian Tian, Liu Yang
doaj   +1 more source

Pseudoduplication of the optic disc initially resembling a bifurcated optic nerve in a strabismus child: a case report

BMC Ophthalmology, 2020
Background Pseudoduplication of the optic disc is a rare clinical condition that is characterized by a circumscribed, disc-like lesion with radiating vessels but only one normal optic nerve.
Liuhui Huang, Qi Zhang, Haiying Jin, Peiquan Zhao   +3 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Case Report of Ocular Coloboma in the CT-Scan

مجله دانشکده پزشکی اصفهان, 2015
Background: This is to report a patient with ocular coloboma presented in optic nerve without microphthalmos and orbital cist.   Case Report: A 13-years-old boy with optic disc coloboma was admitted with the best corrected vision of 20/70 and 20/80 in ...
Gholamali Naderian, Amin Moeini, Valleh Sajjadi, Mohammad Ashkan Naderian   +3 more
doaj  

Anomalias congênitas do disco óptico associadas à doença de Moyamoya: relato de caso Congenital anomalies of the optic disc associated with Moyamoya disease: case report

Arquivos de Neuro-Psiquiatria, 2005
As anomalias congênitas do disco óptico podem estar associadas a anormalidades vasculares intracranianas. Relatamos o caso de um paciente de 9 anos com anomalia do disco óptico tipo morning glory em um olho e coloboma do disco óptico e coróide ...
Ramon Coral Ghanem, André Gustavo Bombana Nicoletti, Leonardo Provetti Cunha, Mario Luiz Ribeiro Monteiro   +3 more
doaj   +1 more source

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

Veterinary 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, Clara Koch, Andrea Meyer‐Lindenberg   +2 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

American Journal of Ophthalmology Case Reports, 2019
Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS). Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities.
Rahul Rachwani Anil, Carlos Rocha-de-Lossada, Carlos Hernando Ayala, Manuela España Contreras   +3 more
doaj   +1 more source

Optic Disc Coloboma

Journal of the Foundations of Ophthalmology
Optic disc coloboma is a rare congenital anomaly of the optic nerve head caused by partial or complete failure of closure of the embryonic fissure. It is characterised by a sharply demarcated, bowl-shaped excavation that replaces part of the optic disc.
openaire   +1 more source