A 21-year-old Caucasian man presented with a complaint of nyctalopia. Visual acuity in both eyes was 20/20 and anterior segment biomicroscopy results were unremarkable. Fundoscopy revealed peripheral avascular zones, minimal peripheral retinal exudation from the retinal vessels, peripheral retinal telangiectasias and anastomosis in both eyes, and retinal vascular dragging toward the temporal periphery in both eyes. Full field electroretinography showed that rod responses were almost absent and that cone responses were reduced. Macular optical coherence tomography showed normal structure in both eyes. Vascular changes were attributed to a subclinical form of familial exudative vitreoretinopathy. This was an interesting case due to the association of familial exudative vitreoretinopathy with rod-cone dystrophy.
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http://dx.doi.org/10.5935/0004-2749.20140082 | DOI Listing |
BJGP Open
January 2025
Department of Family Medicine & Population Health, Belgium, University of Antwerp, Antwerp.
Background: Illness severity, comorbidity, fever, age and symptom duration influence antibiotic prescribing for respiratory tract infections (RTI). Non-medical determinants, such as patient expectations, also impact prescribing.
Aim: To quantify the effect of general practitioners' (GPs') perception of a patient request for antibiotics on antibiotic prescribing for RTI and investigate effect modification by medical determinants and country.
Microbiol Spectr
January 2025
Department of Pharmacology, Showa University Graduate School of Medicine, Shinagawa, Tokyo, Japan.
Unlabelled: The concept of genome-microbiome interactions, in which the microenvironment determined by host genetic polymorphisms regulates the local microbiota, is important in the pathogenesis of human disease. In otolaryngology, the resident bacterial microbiota is reportedly altered in non-infectious ear diseases, such as otitis media pearls and exudative otitis media. We hypothesized that a single-nucleotide polymorphism in the ATP-binding cassette sub-family C member 11 () gene, which determines earwax properties, regulates the ear canal microbiota.
View Article and Find Full Text PDFTaiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
December 2024
Purpose: To investigate whether wide-angle fluorescein angiography (FA) was useful for detecting familial exudative retinopathy (FEVR) in patients with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV).
Methods: This was a retrospective chart review from 2013 to 2023 of all consecutive patients with NEDSDV and pathogenic or likely pathogenic variants.
Results: Seven patients (four females, three males) were seen in the ophthalmology clinic (median age: 14 months).
J Ophthalmol
December 2024
Department of Ophthalmology, Ankara Bilkent City Hospital, Ankara, Turkey.
To evaluate the two-year fundus examination outcomes of term infants undergoing eye screening. Retrospective review of our data of term infants at a tertiary care center (Ankara Bilkent City Hospital) from October 2021 to October 2023. All screened infants underwent red reflex test and dilated posterior segment examination.
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