Purpose: To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP).
Methods: Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed.
Results/conclusions: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/13816810701663535 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lived experiences of empowerment in parents of trans children and adolescents.
J Fam Psychol
January 2025
School of Psychological Science, University of Western Australia.
The construct of empowerment is associated with beneficial outcomes in numerous populations with well-being across multiple domains. Within families, empowerment has been found to be related to both parent and child well-being. As such, empowerment appears to be a promising concept to support parents of young (< 18 years) trans and gender diverse children and adolescents; however, what empowerment means for parents of trans children and adolescents is not known.
View Article and Find Full Text PDFInformational Sources About Breastfeeding Associated with Breastfeeding Initiation: Insights into Racial Disparities.
Breastfeed Med
January 2025
School of Public Health, College of Public Health, University of North Texas Health Science Center, Fort Worth, Texas, USA.
Breastfeeding provides essential nutrition and disease protection for infants while reducing the risk of type 2 diabetes and breast cancer in mothers. Despite these benefits, significant racial and ethnic disparities exist in breastfeeding initiation, particularly among Black women. This study examines racial differences in the receipt of breastfeeding information from varying sources and their association with breastfeeding initiation.
View Article and Find Full Text PDFDeveloping a co-designed, culturally responsive physical activity program for Pasifika communities in Western Sydney, Australia.
Health Promot Int
January 2025
Human Performance Research Centre, School of Sport, Exercise, and Rehabilitation, Faculty of Health, University of Technology Sydney (UTS), Moore Park Rd, Moore Park, Gadigal Land, Eora Nation, Sydney, New South Wales, 2021, Australia.
Pasifika communities in Western Sydney experience significant health disparities, particularly related to chronic diseases such as cardiovascular conditions and diabetes. Physical activity is known to improve both physical and mental health, yet access to culturally responsive physical activity programs for Pasifika communities is limited. This study leveraged expertise from an Advisory Committee to adopt community-based participatory research (CBPR) through Talanoa to co-design a physical activity program specifically tailored for Pasifika people in Western Sydney.
View Article and Find Full Text PDFExploring factors influencing childhood immunization status in East Africa using multilevel ordinal logistic regression analysis.
Front Public Health
January 2025
Department of Statistics, Bahir Dar University, Bahir Dar, Ethiopia.
Introduction: Childhood vaccinations are crucial in safeguarding children from infectious diseases and are recognized as one of the most cost-effective public health interventions. However, children in East African countries face more than a fifteen-fold increased risk of death from vaccine-preventable diseases compared to those in high-income nations. This study aimed to identify the factors influencing childhood immunization status in East Africa.
View Article and Find Full Text PDFAssessing fecal contamination from human and environmental sources using as an indicator in rural eastern Ethiopian households-a cross-sectional study from the EXCAM project.
Front Public Health
January 2025
Center for Food Animal Health, The Ohio State University, Columbus, OH, United States.
Introduction: Enteric pathogens are a leading causes of diarrheal deaths in low-and middle-income countries. The Exposure Assessment of Infections in Rural Ethiopia (EXCAM) project, aims to identify potential sources of bacteria in the genus and, more generally, fecal contamination of infants during the first 1.5 years of life using as indicator.
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!