Results 81 to 90 of about 3,010 (218)
Orbital melanocytoma: When a tumor becomes a relieving surprise
American Journal of Ophthalmology Case Reports, 2018 Purpose: Melanocytomas are rare pigmented tumors that arise form melanocytes and have been reported in the central nervous system. Orbital melanocytomas “also known as blue nevus” are rarely reported.
Haytham E. Nasr +3 more
doaj +1 more source
Presumed choroidal metastasis from soft tissue myoepithelial carcinoma [PDF]
, 2019 Purpose: To report a case of presumed choroidal metastasis from soft tissue myoepithelial carcinoma and highlight challenges in its diagnosis. Observations: A 52-year-old man was referred with a two-week history of photopsia in his left eye.
Bonar, Fiona +4 more
core +1 more source
Optical Coherence Tomography Angiography of Two Choroidal Nevi Variants
Case Reports in Ophthalmological Medicine, 2017 Optical coherence tomography angiography (OCT-A) is a recently established noninvasive technology for evaluation of the retinal and choroidal vasculature. The literature regarding the findings in choroidal nevi is scarce.
Victor M. Villegas +3 more
doaj +1 more source
Mixed-Cell Type Choroidal Melanoma in a Middle-Aged Woman
Revista Brasileira de Cancerologia, 2023 Introduction: Melanomas are malignant neoplasms that occur in various anatomical sites, including the eye. Ocular melanomas account for 5% of all melanomas and are mainly described in Caucasian and older individuals.
Mirelly Aparecida Nolasco Frinhani +8 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli +8 more
wiley +1 more source
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]
, 2019 Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret +15 more
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Comparisons of choroidal nevus measurements obtained using 10-and 20-MHz ultrasound and spectral domain optical coherence tomography [PDF]
, 2017 Purpose: To compare measurements of lesions clinically diagnosed as choroidal nevi using spectral domain optical coherence tomography (SD-OCT) and 10- and 20-MHz ultrasound (US).
Allemann, Norma [UNIFESP] +5 more
core +4 more sources
Six Cases of Polypoidal Choroidal Vasculopathy in Eyes with Choroidal Nevi
Case Reports in OphthalmologyIntroduction: The aim of this study was to report the cases of 6 patients with the coexistence of polypoidal choroidal vasculopathy (PCV) and choroidal nevi.
Andrea Gaggino +4 more
doaj +1 more source
American Journal of Ophthalmology Case Reports, 2022 Purpose: Macular retinal pigment epithelium (RPE) hypopigmentation is a recently described very rare condition and its pathogenesis is not completely understood. We report the case of a 23-year-old female who presented with bilateral whitish, oval-shaped
Federico Fantaguzzi +6 more
doaj +1 more source
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. [PDF]
, 2009 BRAF and NRAS are common targets for somatic mutations in benign and malignant neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive activation of the mitogen-activated protein (MAP) kinase pathway.
Barsh, Gregory S +8 more
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