Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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Morbus Best with Normal EOG - Cases with a Family History of Macular Dystrophy

Pollack K.
University Eye Hospital, Dresden

Purpose: Macular degeneration affects a patient´s entire life, so patients with a family history of macular degeneration should consider their condition when making career choices and even when planning a family. To this end, it is vital to differentiate between cases that threaten a patient´s vision and those that do not.
Method: Four members of a family (mother, daughter, and two sons) were studied, and all but one seemed free of the condition at the initial evaluation. Only one of the sons complained of difficulty driving at night. A full clinical evaluation followed, including vision testing, electrooculography, fluorescence angiography, nyktometry, Goldmann perimetry, comuterized perimetry (Octopus 1-2-3, Program G1x), and a Panel D 15 color test.
Results: The ophthalmological evaluation revealed vitelliform macular dystrophy in all four family members. Fluorescence angiography revealed ring-shaped regions of hyperfluorescence wthout an increase in the late stages. The EOG was normal in all cases. Vision and test results remained stable throughout the two-year follow up, so we diagnosed a vitelliform macular dystrophy. Adult onset foveomacular vitelliform dystrophy is considered a subtype of pattern dystrophy. Genetic analysis of one of the sons indicated a heteroygotic Ala234Val mutation, wich is associated with Morbus Best.
Conclusions: This indicates that adult vitelliform macular dystrophy could be an early stage of Morbus

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