Ocular aspects of Usher syndrome

Abstract

Introduction: Usher Syndrome is a rare syndrome, which typical expressions are hearing loss, retinitis pigmentosa and in some cases impairment of balance and congenital cataract. It is inherited autosomal recessive. Nine genes whose mutations are associated with this condition have been isolated. It is diagnosed on the basis of clinical and genetic testing. The therapy is aimed at facilitating the functioning of these patients in the environment. Gene therapy is promising in treatment. The purpose of this paper is to focus attention on the specificity and multiplicity of the disease, which would be of educational significance to ophthalmologists and otorhinolaryngologists, through the use of the case report of Usher syndrome. Case report: We present the case of gene confirmed Usher syndrome with 85% hearing loss, retinitis pigmentosa and congenital cataract. Female at the age of 39, pregnant at 26 gestational week, second pregnancy. Genetic investigation by Macedonian Academy of Sciences and Arts (MANU) confirmed double heterozygosity for pathogenic changes c.13010C > T. p. (Thr4337Met) and c.13137delC; p. (Thr4380GinfsTer11) in the USH2A gene, a genotype that confirmed the diagnosis of autosomal recessive disease Usher syndrome type 2A (Usher syndrome 2A). Conclusion: Detailed anamnesis is always required in patients with retinitis pigmentosa, who are referred to an ophthalmologist for hearing and vice versa for patients with hearing loss that are examined by an otorhinolaryngologist. Early diagnosis is important in terms of quality of life, i.e. timely diagnosing and undertaking measures for genetic testing in the family, in order to inform them about the type of the disease and the earlier involvement in educational programs designed for these conditions.