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Peripapillary fluid: Obvious and not so obvious!
Surv Ophthalmol
April 2024
University of Pittsburgh, UPMC Eye Center, Pittsburgh, United States. Electronic address:
Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management.
View Article and Find Full Text PDFPeripapillary Intrachoroidal Cavitation.
J Clin Med
July 2023
Department of Ophthalmology, Hôpital Erasme, Route de Lennik 808, 1070 Bruxelles, Belgium.
Peripapillary intrachoroidal cavitation (PICC) is a yellow-orange lesion, located at the outer border of the myopic conus. First described as a localized detachment of the retinal pigment epithelium, its intrachoroidal location was later revealed, justifying its current name. PICC is related to other myopic complications such as posterior staphyloma, but its pathogenesis is not clear to date.
View Article and Find Full Text PDFPhenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.
Front Genet
March 2022
Henan Eye Institute, Henan Eye Hospital, Henan Provincial People's Hospital, Zhengzhou, China.
X-linked juvenile retinoschisis (XLRS), caused by mutations in the 1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has drawn increasing attention. We reported various phenotypes caused by gene mutations in eleven patients from ten Chinese families.
View Article and Find Full Text PDFNovel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.
Mol Genet Genomic Med
March 2022
Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Background: Jalili syndrome (JS) is a rare autosomal-recessive inherited disorder characterized by cone-rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity.
Methods: Two JS patients from a consanguineous family were included in this study.
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Genes (Basel)
November 2021
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
The aim of this study was to identify pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of was directly sequenced and segregation of the identified mutations was performed in available family members.
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