Results 221 to 230 of about 2,705,126 (404)

Minimally Invasive Glaucoma Surgery: Is It Here to Stay?

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT The advent of minimally invasive glaucoma surgery (MIGS) has expanded the treatment options available for glaucoma by providing options for reducing intraocular pressure without the serious complication profile associated with incisional glaucoma surgery.
Neeranjali Jain, Jennifer C. Fan Gaskin
wiley   +1 more source

Suprachoroidal hemorrhage associated with cataract surgery: A case series analysis. [PDF]

open access: yesJ Int Med Res
Liu R   +6 more
europepmc   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

open access: yesClinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan   +6 more
wiley   +1 more source

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

open access: yesClinical Genetics, EarlyView.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones   +16 more
wiley   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

open access: yesClinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman   +11 more
wiley   +1 more source

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