Karina Paunescu

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PURPOSE To describe the genotype-phenotype correlation in a German family with a novel CRX mutation and to perform a comparative analysis of published cases. DESIGN Retrospective observational case series, systematic review, and comparative analysis of the literature. PARTICIPANTS Four related patients with progressive retinal degeneration. METHODS(More)
BACKGROUND Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood. METHODS In 135 families in a case series with severely reduced vision due to a retinal dystrophy in early childhood a complete ophthalmologic examination was extended by two-color threshold perimetry, fundus(More)
To quantify retinal function longitudinally and cross-sectionally in patients with autosomal-recessive early-onset severe retinal dystrophy (EOSRD) associated with RPE65 mutations. The ocular phenotype was characterized in four children from three families up to the second decade of life, and in three siblings from one family aged 43–54 years carrying(More)
In adults, evaluation of fundus autofluorescence (AF) plays an important role in the differential diagnosis of retinal diseases. The aim of this study was to evaluate the feasibility of recording AF in children and teenagers and to define typical AF findings of various hereditary retinal diseases during childhood. Fifty patients aged 2 to 16 years with(More)
Die Diagnose kongenitale Lebersche Amaurose (LCA) umfasst Patienten mit frühkindlicher Netzhautdystrophie und früher Erblindung. In einer Fallserie mit 135 Familien mit schwerer frühkindlicher Netzhautdystrophie wurde die übliche ophthalmologische Untersuchung um eine Zweifarbenschwellenperimetrie, eine Fundusautofluoreszenz (FAF) und eine optische(More)
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