Publications by authors named "J De Zaeytijd"
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.
View Article and Find Full Text PDFPhenotyping vestibulocochlear manifestations in Susac syndrome: a cohort study.
Eur Arch Otorhinolaryngol
October 2024
Article Synopsis
- The study aims to understand how the vestibulocochlear system is affected in patients with Susac syndrome (SuS), which is a rare condition that impacts the brain, eyes, and inner ear.
- A review of 21 patient files shows that most experienced various audiovestibular symptoms, including vertigo and sensorineural hearing loss, with specific audiological and vestibular testing revealing common patterns of dysfunction.
- The findings suggest that early treatment with immunosuppressive therapy can help prevent severe audiovestibular problems, indicating the need for more research to understand the underlying causes and improve patient outcomes.
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA.
View Article and Find Full Text PDFArticle Synopsis
- - Germline mosaicism is a rare genetic mechanism that can complicate the diagnosis and counseling of autosomal recessive disorders, specifically highlighted in two families with PXE (Pseudoxanthoma elasticum) where a paternal whole-gene deletion was detected.
- - One family demonstrated clinical issues associated with PXE, showing retinopathy in a parent who only seemed to carry one copy of the mutated gene (heterozygous), raising challenges in understanding the inheritance patterns.
- - A review of additional cases revealed 16 more patients with gonadal mosaicism, suggesting it might be underreported, highlighting the importance of variant verification in parents and siblings of affected individuals for accurate genetic counseling and management.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Graefes Arch Clin Exp Ophthalmol
November 2024
Article Synopsis
- Gyrate atrophy of the choroid and retina (GACR) is a genetic disorder that causes progressive eye degeneration and significant vision loss, highlighting the importance of understanding its clinical characteristics for future treatments.
- A study of 19 patients showed an early onset of eye symptoms, with many requiring cataract surgery by their late twenties, and demonstrated a link between early dietary protein restriction and improved outcomes in some cases.
- The findings stress the severe nature of GACR, including complications like severe myopia and cystoid maculopathy, underlining the need for early diagnosis to facilitate timely interventions and improve patient quality of life.