Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Published: September 2021
AI Article Synopsis
Article Abstract
Importance: Asymmetric retinitis pigmentosa (RP) is a rare presentation of a normally symmetric condition. Histopathologic evidence should be examined to see if this asymmetry extends to the tissue and cellular levels.
Objective: To determine whether additional information can be obtained about asymmetric RP from studying clinical imaging and pathology correlates, including pathology samples from autopsied eyes.
Design, Setting, And Participants: In this case report, clinical and postmortem histopathological characteristics were compared in 2 eyes of a patient in her 50s with asymmetric RP. Individuals with rare mendelian diseases, such as RP, were studied using data from the curated National Eye Institute Eye Pathology collection.
Main Outcome And Measures: Results of clinical evaluation, multimodal retinal imaging, histopathology, and molecular genetic testing in a case of nonsyndromic asymmetric RP using resources from the ocular pathology collection.
Results: Eyes from a deceased patient in her 50s with nonsyndromic asymmetric RP found within the ocular pathology collection were studied. The patient was diagnosed with RP as an adolescent and presented in her 50s to the eye clinic with advanced RP, with the left eye affected much more severely than the right. The patient's phenotype was studied using in vivo imaging and postmortem histopathology to identify interocular differences in tissue degeneration. Extraction of blood-derived DNA and formalin-fixed paraffin-embedded DNA from autopsied eyes analyzed using next-generation sequencing did not yield a definitive molecular diagnosis nor significant tissue differences.
Conclusions And Relevance: This study demonstrates newly reported histopathological and molecular correlates in asymmetric RP. This report also highlights the relevance of studying previously seen patients and reevaluating their conditions using resources within the ocular pathology collection to gain further insight on their disease.
Purpose: To report cytokine/chemokine profiles of ocular fluid in two patients with herpetic uveitis.
Methods: Cytokine and chemokine profiling of ocular fluid was performed in two patients with herpetic uveitis. Ocular fluid findings were correlated with disease manifestations and the patients' clinical course.
The surgical management of the periocular region in facial palsy is a critical aspect of addressing the ocular morbidity associated with facial paralysis. The reconstruction around the eye in facial palsy should take into account the duration of the facial palsy and underlying ocular pathologies. Exposure keratopathy can develop secondary to lagophthalmos, ectropion, and brow ptosis.
Purpose: This systematic review aims to consolidate evidence on ophthalmological manifestations of angiolymphoid hyperplasia with eosinophilia, focusing on its presentation, diagnosis, and management.
Methods: Preferred reporting items for systematic reviews and meta-analyses-adherent systematic review was conducted across 3 databases from inception until September 2024. Case reports and series detailing angiolymphoid hyperplasia with eosinophilia in ocular structures were included.
Introduction: The prevalence of myopia has increased significantly in recent years including an earlier onset of myopia development on the pediatric population. The main objective of the study is to compare CUVAF (Conjunctival Ultraviolet Autofluorescence) in children with and without myopia to validate its usefulness as an outdoor protective biomarker.
Methods: A case-control observational study was conducted in a child cohort from subjects that attended to the Ophthalmology Department of Clínica Universidad de Navarra for an ophthalmological examination.
