AI Article Synopsis
Article Abstract
Purpose: To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), which are characterized by autofluorescent deposits.
Design: Clinical, electrophysiologic, and molecular retrospective study.
Participants: The database of a clinic specialized in genetic sensory diseases was screened for patients with macular vitelliform dystrophy. Patients with an age of onset less than 40 years were included in the VMD2 group (25 unrelated patients), and patients with an age of onset more than 40 years were included in the AVMD group (19 unrelated patients).
Methods: Clinical, fundus photography, and electro-oculogram (EOG) findings were reviewed. Mutation screening of BEST1 and PRPH2 genes was systematically performed.
Main Outcome Measures: Relevance of age of onset, family history, and Arden ratio were reviewed.
Results: Patients with VMD2 carried a BEST1 mutation in 60% of the cases. Seven novel mutations in BEST1 (p.V9L, p.F80V, p.I73V, p.R130S, pF298C, pD302A, and p.179delN) were found. Patients with VMD2 with a positive family history or a reduced Arden ratio carried a BEST1 mutation in 70.5% of cases and in 83% if both criteria were fulfilled. Patients with AVMD carried a PRPH2 mutation in 10.5% of cases and did not carry a BEST1 mutation. The probability of finding a PRPH2 mutation increased in the case of a family history (2/5 patients). Electro-oculogram was normal in 3 of 15 patients with BEST1 mutations and reduced in the 3 patients with PRPH2 mutations.
Conclusions: Age of onset is a major criterion to distinguish VMD2 from AVMD. Electro-oculogram is not as relevant because decreased or normal Arden ratios have been associated with mutations in both genes and diseases. A positive family history increased the probability of finding a mutation. BEST1 screening should be recommended to patients with an age of onset less than 40 years, and PRPH2 screening should be recommended to patients with an age of onset more than 40 years. For an onset between 30 and 40 years, PRPH2 can be screened if no mutation has been detected in BEST1.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ophtha.2010.10.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFTremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
View Article and Find Full Text PDFCurrent perspectives and the future of disease-modifying therapies in type 1 diabetes.
World J Diabetes
January 2025
Department of Endocrinology and Metabolism, Lancashire Teaching Hospitals NHS Trust, Preston PR2 9HT, United Kingdom.
Use of immunomodulating agents to prevent the progression of autoimmune β-cell damage leading to type 1 diabetes mellitus (T1DM) is an interesting area for research. These include non-specific anti-inflammatory agents, immunologic vaccination and anti-inflammatory agents targeting specific immune cells or cytokines. Teplizumab is an anti-CD3-molecule that binds to and leads to the disappearance of the CD3/TCR complex and rendering the T cell anergic to its target antigen.
View Article and Find Full Text PDFAssociation between age at diagnosis of diabetes and ocular disease: Insights from a recent article.
World J Diabetes
January 2025
Department of Cardiology, Zhongda Hospital, Southeast University, Nanjing 210009, Jiangsu Province, China.
In this article, we discuss Ye 's recent article on the association between age at diabetes diagnosis and subsequent risk of age-related ocular diseases. The study, which utilized United Kingdom Biobank data, highlighted a strong link between early diabetes onset and major eye conditions, such as cataracts, glaucoma, age-related macular degeneration, and vision loss, independent of glycemic control and disease duration. This finding challenges the previous belief that diabetic eye disease primarily correlates with hyperglycemia.
View Article and Find Full Text PDFUnraveling the landscape of pediatric pancreatic tumors: Insights from Japan.
World J Gastrointest Oncol
January 2025
Faculty of Medicine, Imperial College London, London SW7 2AZ, United Kingdom.
Pediatric pancreatic tumors, though rare, pose significant diagnostic and management challenges. The recent, 22-year nationwide survey on pediatric pancreatic tumors in Japan by Makita offers valuable insights into this uncommon entity, revealing striking geographical variations and questioning current treatment paradigms. This editorial commentary analyzes the study's key findings, including the predominance of solid pseudopapillary neoplasms and their younger age of onset, which contrast sharply with Western data.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!