Clinical presentation of a Roma family with autosomal recessive Usher Syndrome

Abstract

AbstractPurpose Usher Syndrome is a genetic condition involving sensory neural hearing loss and retinitis pigmentosa (RP).RP is a heritable group of genetic diseases that is characterized by degeneration of the retinal pigment epithelium due to loss of photoreceptors, primary rods and secondary cones.Methods We present 2 familial cases, brother (48 years old) and sister (45 years old), with Usher syndrome. According to family history data their grandmother (the mother of their father) had the same disease.Results The visual acuity of the brother was pplc of both eyes, while the visual acuity of the sister was 0,1 of both eyes. Fundoscopically we observed osteoclast‐like pigmentations in the posterior pole of the retina and in and around the macula lutea of both cases. In both cases we found narrowed arterioles and diffuse bilateral wax pallor of the papilla.The ERG of the both had micropotentials with lack of flicker response. The FA of both siblings – revealed dense osteoclast‐like pigment in the posterior pole and the macula area. In the case of the sister through Kugel perimetry was established tunnel vision to 10o. Humphrey perimetry showed reduced retinal sensitivity in bilateral central and peripheral zone; concentric narrowing of the visual field only for the sister.In both of the cases audiogram showed high rates of sensory neural bilateral hearing decrease.Conclusion The presented two cases of Usher syndrome are a significantly rarer form of RP with probable autosomal‐recessive form of inheritance. Blood for DNA analysis was taken.