Revista Cubana de Oftalmología
versión ISSN 0864-2176
SOTO GARCIA, Mavys et al. Presentation of three cases with North Carolina macular dystrophy. Rev Cubana Oftalmol [online]. 2012, vol.25, n.1, pp. 155-160. ISSN 0864-2176.
The ophthalmological characteristics of three patients, two male siblings and their father, with diagnosis of North Carolina macular dystrophy were presented. This is a genetic dysfunction that causes congenital or early onset macular degeneration. It is characterized by a dominant autosomal heredity, with complete penetrance, genetically mapped in the chromosome 6q16. The lesions are mainly stationary. The funduscopic manifestations vary. The type of lesion is mainly stationary whereas funduscopic manifestations are varied. The dysciform lesion in the macular area and decrease of the macular thicness according to the macular coloboma prevailed, with identical particularities in the three patients. The visual acuity varied from 0.6 to 0.2.
Palabras llave : Macular dystrophy; North Carolina; dominant autosomial; chromosome; drusenoids; coloboma.