MACULAR FUNCTION TESTING IN A GERMAN PEDIGREE WITH NORTH-CAROLINA MACULAR DYSTROPHY

Background: Our purpose was to investigate central visual function in North Carolina macular dystrophy (MCDR1). A German family with genetic ally proven MCDR1 was followed for more than 20 years. Methods: In add ition to routine clinical examinations, static and kinetic fundus peri metry was performed with the scanning laser ophthalmoscope. The center of fixation was determined. Results: Visual acuity was 0.6 or better in all but one eye of seven members of this family and did not markedl y change during follow-up. Fundus examination confirmed that the fixat ion was at the nasal edge of the central scar in five affected eyes wi th reduced stability of fixation. One eye had a prominent gliotic memb rane, and fixation was within this area. Conclusions: Patients had nea rly normal Visual acuity even though they presented with deep central scotomas and a shift of the center of fixation away from the fovea. Be cause MCDR1 has good long-term functional prognosis, there might be an early transdifferentiation of the new locus of fixation.