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.
Human
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Adult
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Young Adult
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Adolescent
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RETINITIS PIGMENTOSA