1. Akromatopsili İki Olgunun İrdelenmesi.
- Author
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Zengın, Mehmet Özgür, Doğan, Beysim, Zengın, Neslihan, and Men, Gamze
- Subjects
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COLOR blindness , *VISUAL acuity , *SCOTOMA , *COLOR vision , *VISION disorders , *COUNSELING - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2012