Genetic analysis of Filipinos with familial retinitis pigmentosa
- Author:
Ronquillo Yasmyne C
;
Eusebio Ma Cristina I
- Publication Type:Case Reports
- MeSH:
Human;
Adult;
Young Adult;
Adolescent;
RETINITIS PIGMENTOSA
- From:
Philippine Journal of Ophthalmology
2003;28(3):124-129
- CountryPhilippines
- Language:English
-
Abstract:
The study group consisted of 5 Retinitis Pigmentosa families with no associated systemic conditions. DNA from these families were collected and screened for mutations in the rhodopsin and peripherin RDS genes using restriction endonuclease studies Methods : Patients were taken from the Philippine General Hospital - Medical Retina Clinic and the Resources for the Blind. All were clinically diagnosed as Retinitis Pigmentosa with a strong family history of nightblindness. All underwent complete ophthalmological examination including fundus photos and ERG. 5 - 10 cc of peripheral blood were extracted and sent to Stone Molecular Biology Lab at University of Iowa Hospital and Clinics Results: 5 families had negative results for known mutations in rhodopsin and peripherin RDS genes.
