Article
Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.
Ophthalmic genetics - 1 Jan 2000
Sudha Dhandayuthapani, Patric Irene Rosita Pia, Ganapathy Aparna, Agarwal Smitha, Krishna Shuba, Neriyanuri Srividya, Sripriya Sarangapani, Sen Parveen, Chidambaram Subbulakshmi, Arunachalam Jayamuruga Pandian
Abstract excerpt
BACKGROUND: In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity. Therefore it was of interest to understand the genetic basis of the condition in this patient. MATERIALS AND...
Topics
- Child, Preschool
- DNA Mutational Analysis
- Developmental Disabilities
- Electroretinography
- Exons
- Eye Proteins
- Female
- Genome, Human
- Hearing Loss, Sensorineural
- High-Throughput Nucleotide Sequencing
- Humans
- Male