Examining of two cases with Achromatopsia

Objective & Hypothesis:Achromatopsia is a rare, inherited condition characterized by reduced visual acuity, photophobia, small central scotoma and total or partial loss of color vision.

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Key Findings & Data: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.

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Conclusion & Impact:Early diagnosis of diseases that have characteristic clinical findings like Achromatopsia is important for genetic counselling.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

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.

Özet

Akromatopsi, görme keskinliğinde azalma, fotofobi, küçük merkezi skotom ve renkli görmede tamamen kayıp ya da azalma ile karakterize nadir görülen herediter bir hastalıktır. Elektroretinografi (ERG) testlerinde koni hücre fonksiyonlarında tamamen kayıp izlenir. Çalışmamızda görme azlığı ve fotofobi şikayetleri ile kliniğimize başvuran 32 yaşındaki kadın hasta ve onun yedi yaşındaki kızı sunulmuştur. Akromatopsi gibi tipik klinik özellikler taşıyan hastalıkların erken tanınması aileye genetik danışmanlık verebilmek açısından önemlidir.

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Cite This Article

ZENGİN, M. Ö., DOĞAN, B., ZENGİN, N., MEN, G. (2012). Examining of two cases with Achromatopsia. Retina-Vitreus, Cilt: 20 - Sayı: 1, 63–65. https://ajindex.com/articles/340346

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