Results 211 to 220 of about 260,075 (308)

Intraocular Metastasis: Differential Diagnosis and Management

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Intraocular metastases represent the most common type of malignant intraocular tumour in adults. These commonly affect the choroid but can also involve the iris, ciliary body, retina, vitreous, optic disc or lens. Breast and lung cancer are the most common origins of intraocular metastases.
Genovefa Μachairoudia   +3 more
wiley   +1 more source

Arborescent Cataract [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1928
openaire   +2 more sources

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

open access: yesClinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis   +19 more
wiley   +1 more source

Clinical and economic impacts of optical coherence tomography prior to cataract surgery in a low-to-middle-income country. [PDF]

open access: yesFront Ophthalmol (Lausanne)
Inkarbekov M   +4 more
europepmc   +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

Refractive outcomes and predictability after cataract surgery combined with GATT or Kahook Dual Blade goniotomy. [PDF]

open access: yesSci Rep
de Sousa Franco CGV   +9 more
europepmc   +1 more source

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

open access: yesClinical Genetics, EarlyView.
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   +7 more
wiley   +1 more source

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