Purpose: A 9 year-old child demonstrated symptomatic exudative vitreoretinopathy. The other family members were examined to detect funduscopic changes suggestive of the disease.
Methods: A complete ocular examination was performed including fundus biomicroscopic examination and fluorescein angiography.
Results: The patient with exudative vitreoretinopathy exhibited retinal neovascularisation and minime vitreous hemorrhage in one eye. He was successfully treated with laser photocoagulation. The mother and her 5 other children had isolated retinal vascular tortuosity.
Conclusion: The association in the same pedigree of exudative vitreoretinopathy and retinal vascular tortuosity suggest the same nosologic frame to these autosomal dominant diseases. They could represent different expressions of the same genetic disorder.
Download full-text PDF |
Source |
---|
Clin Exp Ophthalmol
January 2025
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs.
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.
View Article and Find Full Text PDFRetina
December 2024
Sue Anschutz-Rodgers Eye Center, Department of Ophthalmology, University of Colorado School of Medicine, Aurora, CO, USA.
Purpose: To characterize long-term functional and anatomical outcomes in patients with familial exudative vitreoretinopathy (FEVR).
Methods: A retrospective chart review was conducted of all patients with a diagnosis of FEVR at a tertiary academic institution and its affiliated children's hospital treated from January 2003 through January 2024. Demographic and clinical data were collected.
J Neuroophthalmol
December 2024
Anant Bajaj Retina Institute (SKP, KC), L V Prasad Eye Institute, Bhubaneswar, India; All India Institute of Ophthalmic Sciences (SM), New Delhi, India; and Anant Bajaj Retina Institute (SJ, RN), L V Prasad Eye Institute, Hyderabad, India.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!