Results 21 to 30 of about 10,294 (182)
Nasopalpebral lipoma coloboma syndrome
Indian Journal of Ophthalmology, 2011 Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome.
N Suresh Babu, D Raviprakash, Ravi Kumar
doaj +1 more source
Is it a coloboma or not? A new definition for isolated lens coloboma: focal zonular dysgenesis
The Pan-American Journal of Ophthalmology, 2023 Purpose: Ocular coloboma is defined as a congenital malformation caused by defective closure of the fetal fissure, resulting in a notch in any structure.
Nicole B Larivoir +5 more
doaj +1 more source
TGFβ-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism [PDF]
Open Biology, 2018 The optic fissure is a transient gap in the developing vertebrate eye, which must be closed as development proceeds. A persisting optic fissure, coloboma, is a major cause for blindness in children.
Max D. Knickmeyer +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Bilateral Macular Coloboma: A Rare Entity
Delhi Journal of Ophthalmology, 2022 A macular coloboma is rare, congenital entity characterized by round or oval area of chorioretinal atrophy of variable size at the macula. A 20-year-old male visited to out patient department with a complain of poor vision in both eyes. Patient underwent
Rajlaxmi Virkar +5 more
doaj +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Indian Journal of Ophthalmology, 2019 To report case of bilaterally symmetrical choroidal coloboma within posterior staphyloma with MHRD. This is a case report of a 50year old female presented with diminished vision in both eyes.
Kadri Venkatesh +3 more
doaj +1 more source
European Journal of Human Genetics, 2011 Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve ...
openaire +2 more sources