Retina-Vitreous
2012 , Vol 20 , Num 1
Examining of Two Cases with Achromatopsia
1M.D., Tepecik Training and Research Hospital Eye Clinic, İzmir/TURKEY2M.D. Asistant, Tepecik Training and Research Hospital Eye Clinic, İzmir/TURKEY
3M.D., Tepecik Training and Research Hospital Pediatri Clinic, İzmir/ TURKEY
4M.D. Associate Professor, Tepecik Training and Research Hospital Eye Clinic, İzmir/TURKEY Achromatopsia is a rare, inherited condition characterized by reduced visual acuity, photophobia, small central scotoma and total or partial loss of color vision. Electroretinograghy (ERG) recordings and psychophysical tests typically show a complete absence of cone function. In this study we described two cases, a 32-years-old woman and her seven-years-old daughter, who presented with visual impairment and photophobia. Early diagnosis of diseases that have characteristic clinical findings like Achromatopsia is important for genetic counselling. Keywords : Achromatopsia, reduced visual acuity, photophobia