Results 101 to 110 of about 85,145 (254)

Fundus photographs from Case 21 with unilateral optic nerve hypoplasia left eye.

, 2020
Fundus photographs from Case 21 with unilateral optic nerve hypoplasia and heterozygous missense variants in COL4A1 and OPA1 showing (A) a normal optic disc in the right eye and (B, magnified image) optic nerve hypoplasia in the left eye with a small ...
Sara Dahl (541090), Jesper Eisfeldt (5007209), Anna Katharina Schröder (8431065), Maria Pettersson (764125), Kristina Teär Fahnehjelm (8431068), Ronny Wickström (509570), Anna Lindstrand (764128), Britt-Marie Anderlid (213968)   +7 more
core   +1 more source

Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia.

Journal of neuro-ophthalmology, 2018
S uperior segmental optic nerve hypoplasia (SSOH) is a nonprogressive congenital optic nerve head anomaly that is characterized by a localized inferior visual field defect, superior retinal nerve fiber layer (RNFL) defect, and good visual acuity (1). Liu
J. Shin, J. Jung
semanticscholar   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Journal of Ophthalmology, 2018
Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve ...
Grace M. Wang, Lev Prasov, Hayder Al-Hasani, Colin E. R. Marrs, Sahil Tolia, Laurel Wiinikka-Buesser, Julia E. Richards, Brenda L. Bohnsack   +7 more
doaj   +1 more source

Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia

, 2015
This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children\u27s Hospital Los Angeles ...
Fink, C., Borchert, M., Simon, C. Z., Saper, C.   +3 more
core   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Walsh & Hoyt: Chiasmic Optic Nerve Hypoplasia

, 2005
Congenital lesions of the retina, optic nerve, chiasm, tract, or retrogeniculate pathways are associated with segmental hypoplasia of the corresponding portions of each optic nerve (149,150). Hoyt et al.
Michael C. Brodsky, MD
core  

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Rare single nucleotide variants identified in the optic nerve hypoplasia cohort.

, 2020
Rare single nucleotide variants identified in the optic nerve hypoplasia cohort.
Sara Dahl (541090), Jesper Eisfeldt (5007209), Anna Katharina Schröder (8431065), Maria Pettersson (764125), Kristina Teär Fahnehjelm (8431068), Ronny Wickström (509570), Anna Lindstrand (764128), Britt-Marie Anderlid (213968)   +7 more
core   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source