Results 61 to 70 of about 50,126 (168)
Birth Defects Research, Volume 118, Issue 3, March 2026.ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam +3 more
wiley +1 more source
, 2015 Purpose: To report a case of canine atypical chorioretinal coloboma where ophthalmoscopic, fluoroangiographic and optical coherence tomography characteristics are described.
Rodríguez Álvaro, Alfonso +2 more
core +1 more source
The hidden eye: A case of cryptophthalmos
Philippine Journal of Ophthalmology, 2004 Objective: To report a case of cryptophthalmos. Methods: This is a report of a case of cryptophthalmos seen at the University of the Philippines-Philippine General Hospital (UP-PGH).
Raquel M. Joaquin-Quino, MD +2 more
doaj
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
wiley +1 more source
ABCB6 Mutations Cause Ocular Coloboma [PDF]
, 2012 Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity.
Shi, Yi +27 more
core +1 more source
Indian Journal of Ophthalmology, 1992 This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting ...
Verma Manju, Faridi MMA
doaj
Ultrasonographic Appearance of a Posterior Lenticonus in a Cat
Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.ABSTRACT The objective of this study is to present high‐quality and up‐to‐date ocular ultrasonographic images and videos of a posterior lenticonus with concomitant mature cataract in a cat. Additionally, the clinical findings, surgical treatment, and outcome are reported for completeness and to confirm the diagnosis.
Antonella Rampazzo +2 more
wiley +1 more source
Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
, 2008 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
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康 +1 more
core
Reflexive Dramaturgy - Scenic Digital Book Launch by Tore Vagn Lid
, 2021 The book «Reflexive Dramaturgy» makes up the last part of a perennial artistic research project that Tore Vagn Lid has been leading as a professor at the Oslo National Academy of the Arts.
Lid, Tore Vagn
core
Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna +7 more
wiley +1 more source