BACKGROUND: Our purpose was to investigate central visual function in North Carolina macular dystrophy (MCDR1). A German family with genetically proven MCDR1 was followed for more than 20 years. METHODS: In addition to routine clinical examinations, static and kinetic fundus perimetry 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 markedly change during follow-up. Fundus examination confirmed that the fixation was at the nasal edge of the central scar in five affected eyes with reduced stability of fixation. One eye had a prominent gliotic membrane, and fixation was within this area. CONCLUSIONS: Patients had nearly normal visual acuity even though they presented with deep central scotomas and a shift of the center of fixation away from the fovea. Because MCDR1 has good long-term functional prognosis, there might be an early transdifferentiation of the new locus of fixation.
BACKGROUND: Our purpose was to investigate central visual function in North Carolina macular dystrophy (MCDR1). A German family with genetically proven MCDR1 was followed for more than 20 years. METHODS: In addition to routine clinical examinations, static and kinetic fundus perimetry 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 markedly change during follow-up. Fundus examination confirmed that the fixation was at the nasal edge of the central scar in five affected eyes with reduced stability of fixation. One eye had a prominent gliotic membrane, and fixation was within this area. CONCLUSIONS:Patients had nearly normal visual acuity even though they presented with deep central scotomas and a shift of the center of fixation away from the fovea. Because MCDR1 has good long-term functional prognosis, there might be an early transdifferentiation of the new locus of fixation.
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Authors: Kent W Small; Stijn Van de Sompele; Karen Nuytemans; Andrea Vincent; Ozge Ozalp Yuregir; Emine Ciloglu; Cahfer Sariyildiz; Toon Rosseel; Jessica Avetisjan; Nitin Udar; Jeffery M Vance; Margaret A Pericak-Vance; Elfride De Baere; Fadi S Shaya Journal: Mol Vis Date: 2021-09-01 Impact factor: 2.367