AI Article Synopsis
- The study examines how different genotypes of Leber hereditary optic neuropathy (LHON) affect visual prognosis.
- A systematic review of ten studies revealed significant differences in visual outcomes between the three primary mutations of LHON.
- Despite variations in prognosis, factors like age of onset and sex ratio showed no significant differences among the genotypes.
Article Abstract
Aim: To analyze the influences of different genotypes (, and ) of Leber hereditary optic neuropathy (LHON) on visual prognosis.
Methods: After a systematic literature search, all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included. All statistical tests were calculated with Revman 5.2 and STATA 12.0.
Results: Ten independent studies were included finally. A significant association between the three primary mutations and prognostic vision over 0.3 were found in versus [odds ratio (OR)=0.10, 95% confidence interval (CI)=0.05-0.17, <0.001], versus (OR=0.18, 95%CI=0.09-0.37, <0.001) and versus (OR=2.45, 95%CI=1.10-5.48, <0.05). In addition, obtained by pairwise comparison, the vision during onset, age of onset and sex ratio of these three kinds of patients, have no statistical significance (>0.05).
Conclusion: From pairwise comparison, we conclude that these three different genotypes of LHON are related to patients' visual prognosis. The patients might have a best prognostic vision, second, and worst. And there is little relation between the three different genotypes and patients' vision, age of onset and sex ratio.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075668 | PMC |
| http://dx.doi.org/10.18240/ijo.2016.10.21 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Indian J Ophthalmol
December 2024
Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.
Design: Retrospective observational study.
Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.
Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Am J Ophthalmol
December 2024
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:
Purpose: To characterize the clinical phenotype and disease progression in patients with NMNAT1-associated Leber congenital amaurosis (LCA) within the Korean population.
Design: Retrospective, observational case series.
Subjects: Fourteen patients with LCA with biallelic variants of NMNAT1 at a single tertiary referral center.
Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.
Life (Basel)
October 2024
Department of Ophthalmology, Akron Children's Hospital, Akron, OH 44308, USA.
Inherited retinal diseases (IRDs) are a clinically and genetically diverse group of progressive degenerative disorders that can result in severe visual impairment or complete blindness. Despite their predominantly monogenic inheritance patterns, the genetic complexity of over 300 identified disease-causing genes presents a significant challenge in correlating clinical phenotypes with genotypes. Achieving a molecular diagnosis is crucial for providing patients with definitive diagnostic clarity and facilitating access to emerging gene-based therapies and ongoing clinical trials.
View Article and Find Full Text PDFPhenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.
Int J Mol Sci
November 2024
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.
Article Synopsis
- Inherited retinal dystrophies (IRDs) are a significant cause of blindness or severe visual impairment in children, with varying symptoms and genetic associations.
- The study analyzed data from 309 pediatric patients to determine the clinical and genetic profiles of IRDs, finding distinct patterns in preschoolers versus school-aged children.
- Preschoolers exhibited symptoms like nystagmus and established genetic variants linked to isolated and syndromic forms of IRDs, while school-aged children largely showed declining visual acuity and a higher prevalence of cone-dominated diseases.
Clinical and mutational signatures of -associated retinopathies: a multicentre study.
J Med Genet
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Background: To delineate the clinical and mutational signatures of patients with -associated retinopathies.
Methods: This multicentre retrospective cohort study involved 40 patients with mutations and 40 age-matched and gender-matched inherited retinal diseases (IRDs). The detailed phenotyping and genotyping characteristics and genotype‒phenotype correlations of the patients were analysed.
Want 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!