Results 131 to 140 of about 57,289 (349)

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

open access: yesClinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao   +4 more
wiley   +1 more source

Topiramate‐induced acute angle closure with suprachoroidal effusion: Insights from a novel ultra‐wide‐field OCT device

open access: yes
Acta Ophthalmologica, EarlyView.
Michael Hafner   +6 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

open access: yesClinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams   +14 more
wiley   +1 more source

Laser Processing of Intraocular Lenses

open access: yesApplied Sciences
Polymeric Intraocular lenses (IOLs) are vital for restoring vision following cataract surgery and for correcting refractive errors. Despite technological and medical advancements, challenges persist in achieving optimal vision and preventing ...
Alexandra Sinani   +5 more
doaj   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

open access: yesClinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson   +11 more
wiley   +1 more source

Topical latanoprost does not cause macular thickening after uncomplicated cataract surgery. [PDF]

open access: yes, 2012
PurposeTo explore changes in central macular thickness (CMT) after a two-month period of glaucoma therapy with topical latanoprost after uneventful phacoemulsification.MethodsForty-one eyes of 31 patients with primary open angle or pseudoexfoliative ...
Amini, Heydar   +7 more
core   +1 more source

Surface properties of commercially available hydrophobic acrylic intraocular lenses: Comparative study

open access: green, 2019
Chiara De Giacinto   +5 more
openalex   +2 more sources

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

open access: yesEquine 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   +5 more
wiley   +1 more source

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