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Syndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFPHARC syndrome: an overview.
Orphanet J Rare Dis
November 2024
Centre of Human Genetics, University Hospitals Leuven, Herestraat 49, 3000, Louvain, Belgium.
PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12) gene, which encodes a lyso-phosphatidylserine (lyso-PS) lipase. The Orpha number for PHARC is ORPHA171848. The clinical picture of PHARC syndrome is very heterogeneous with a wide range of age at onset for each symptom, making a clinical diagnosis very challenging.
View Article and Find Full Text PDFBiallelic Deletion of Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Mol Syndromol
October 2024
Department of Medical Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Article Synopsis
- Peroxisome biogenesis disorders (PBDs) include various diseases with diverse symptoms like developmental delays, hearing loss, and liver issues, linked to genetic mutations affecting peroxisome function.* -
- A patient was studied using whole-exome sequencing to identify genetic causes behind their clinical symptoms, which included developmental delays and organ enlargement, but no single-nucleotide mutations were found.* -
- However, a homozygous deletion in exon 4 of the gene was identified, affecting the protein's transmembrane domain, which is crucial for normal cellular processes and peroxisome function.*
Dilated cardiomyopathy revealing Refsum disease: a case report.
J Med Case Rep
September 2024
Cardiology Department, Ibn Rochd Hospital University, Casablanca, Morocco.
Article Synopsis
- Refsum disease is a rare genetic disorder affecting lipid metabolism, leading to the buildup of phytanic acid and resulting in symptoms like ataxia, neuropathy, and hearing loss, with potential cardiac issues developing later in life.
- A case study presented a 38-year-old man who experienced acute heart failure due to dilated cardiomyopathy, confirmed by high levels of phytanic acid, illustrating that cardiac problems are common in advanced Refsum disease.
- Management options for Refsum disease include dietary restrictions on phytanic acid and lipid apheresis to alleviate symptoms and improve patients' quality of life.
Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.
Clin Exp Optom
September 2024
Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Australia.
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