Results 71 to 80 of about 431,527 (189)

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A case of successful laser coagulation in pediatric ophthalmology: a patient with the optic disc pit complicated by serous neuroepithelial detachment

Journal of Ophthalmology, 2016
Introduction. Optic disk pit has been considered as coloboma located, as a rule, near temporal part of the optic disc. Central serous retinal detachment develops in 50 % of patients.
I.I. Shevchenko
doaj   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.
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

Walsh & Hoyt: Optic Disc Coloboma

, 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  

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source

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

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
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

Optic disc Pit with Retinoschisis in Non-Arteritic Anterior Ischemic Optic Neuropathy

, 2023
This case describes a patient with non-arteritic anterior ischemic optic neuropathy and concurrent macular retinoschisis who was later found to have an optic disc pit after resolution of disc edema.
Abraham Hang, MD; Megan M Hughes-Salabar, COA; Yin Allison Liu, MD, PhD
core  

Coloboma of Optic Nerve

, 2021
Summary: • In embryology, the eye beings as a vesicle > stalk outpouching that forms optic cup > forms the back part of the eye (optic nerve) • Surface ectoderm invaginates to form lens placode > forms the front part of the eye o Lens placode pinches off
Andrew G. Lee, MD; Nadia Ansari
core  

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane

BMC Ophthalmology
Purpose To report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. Observations A 12-year-old female presented with bilateral visual decline.
Bin Meng, Min Cui, Ang Ji
doaj   +1 more source