Results 31 to 40 of about 3,887 (162)

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 45, Issue 11, Page 1515-1518, October 2025.
Jackson M, Suchet I, Langdon K, Chadha R, Yu W, Chan ES, Thomas MA.   +6 more
europepmc   +2 more sources

Repair of Iris Defects

Delhi Journal of Ophthalmology, 2014
Purpose: To demonstrate three techniques of repair of iris defects in cases with iridodialysis, post surgical coloboma and post-traumatic mydriasis. Methods: Video-based description of repair of three cases of iris defects, highlighting the technique and
Tushar Agarwal, Tarun Arora
doaj   +1 more source

Ascher′s syndrome: A rare case report

Indian Journal of Ophthalmology, 2015
An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer ...
Shivcharan Lal Chandravanshi, Vinay Mishra   +1 more
doaj   +1 more source

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

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, Tzyy-Chang Ho, Ching-Chung Chang, Tzu-Hsun Tsai, Ping-Kang Hou   +4 more
doaj   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, EarlyView.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Ocular coloboma combined with cleft lip and palate: a case report

BMC Ophthalmology, 2020
Background Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal,
Yung Ju Yoo, Sang Beom Han, Hee Kyung Yang, Jeong-Min Hwang   +3 more
doaj   +1 more source

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, Marc Orts‐Porcar, Francesca Del Chicca   +2 more
wiley   +1 more source