[Retinitis pigmentosa--clinical and genetic aspects with low vision].
OBJECTIVE
Clinical and genetic study of a case of retinitis pigmentosa following the vision and the quality of life in this disease.


METHODS
This paper presents a female periodically reevaluated in our clinic from the first diagnosis of retinitis pigmentosa which was established ten years ago, with many relatives with the diagnosis of retinitis pigmentosa, has also high hyperopia and optic disc drusen. A particular aspect--she is student at English Faculty and she want to become professor in a school for children with low vision. Clinical evaluation included complete ophthalmic and general examination, family history and also some additional lab and imaging study, In genetic evaluation of this case were used the basic rules of genetics to diagnose the genetic form of retinitis pigmentosa in order to offer a correct genetic counseling.


CONCLUSIONS
Retinitis pigmentosa needs a broad clinical evaluation and a careful socio-professional rehabilitation of these low-vision patients.
Bogdănici
Camelia
C
Clinica i Oftalmologie, UMF "Gr. R. T. Popa", Iaşi.
Rusu
Cristina
C
Moţoc
Irina
I
Crăşmaru
Cristina
C
D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D006956:Hyperopia / Q000235:genetics; D009887:Ophthalmoscopy; D015594:Optic Disk Drusen / Q000235:genetics; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*; D014787:Vision Tests; D015354:Vision, Low / Q000235:genetics*; D058609:Visual Field Tests