Publications by authors named "Runqing Ma"
Article Synopsis
- The study focuses on nanophthalmos, a genetic eye disorder causing vision loss in children, and aims to identify its genetic causes and analyze associated clinical features.
- Researchers performed eye exams and used whole exome sequencing to find genetic variants in affected families, confirming their findings with Sanger sequencing.
- They discovered that five families with nanophthalmos presented different genetic mutations, with some patients showing varied symptoms despite having similar genetic backgrounds, indicating phenotypic diversity.
Aim: To describe the prevalence and demographic characteristics of corneal blindness in an urban and rural region of Ningxia, located in the northwest part of China.
Methods: A stratified, randomized sampling procedure was employed in the study, including urban and rural area of all age group. Visual acuity, anterior segment and ocular fundus were checked.