OCULAR ASPECTS OF USHER SYNDROME
Date Issued
2020-06
Author(s)
Ivanova Maja
Abstract
Introduction: Usher Syndrome is a rare
syndrom, 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 mutation 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.
syndrom, 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 mutation 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.
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