No 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.

Goldenhar's syndrome (GS) is a complex syndrome characterized by a combination of abnormalities: hemifacial macrosomia, mandibular hypoplasia, ocular dermoids, ear abnormalities, and vertebral disorders. The incidence of GS is about 1 in 5000 to 25,000 live births. The male to female ratio is 3: 2.The etiology of this rare disease is not fully understood. The treatment protocol depends on the age of the patient and systemic clinical presentations. This paper presents a case of a 46-year-old woman with Goldenhar syndrome, which manifested with facial asymmetry, epibulbar dermoid, hearing loss, and scoliosis. Because it is a congenital syndrome, these people's lives are complex from an early age. There is a need for timely recognition of this syndrome and a multidisciplinary approach in treating these patients, with a team of specialist physicians, to enable them as much optimal functioning as possible in the environment. By presenting this case report, we would like to attract the attention of GS, which would be of educational significance for all physicians, primarily ophthalmologists, as well as otolaryngologists and orthopedists.

To present a patient with polypoidal choroidal vasculopathy, an entity often overlooked and misdiagnosed in daily clinical practice.A 73-year-old patient with reduced visual acuity in the left eye was evaluated with a complete ophthalmological examination, fundus photography, optical coherence tomography of the posterior segment of the eye, and optical coherence tomography with angiography and a diagnosis of polypoidal choroidal vasculopathy with development of a type 1 choroidal neovascular network (aneurysmalpolypoidal network) was made.The changes shown on OCT referred to the presence of subretinal fluid, PED in the shape of the letter M, the presence of a "double layer sign" from the developed neovascular network in the form of a renal glomerulus. After application of an anti-VEGF preparation (Aflibercept) for a period of six months (five applied doses, three consecutive, and two every two months) there was regression of the lesion and improvement of visual acuity from 0.5 to 0.9 according to the Snellen optotype.The characteristic changes of OCT and OCT-A, as well as the course of the disease corresponded with the literature data that we consulted during the evaluation of this case, thus the diagnosis of polypoidal choroidal vasculopathy was confirmed. Timely recognition of this not so rare entity is of great importance for appropriate management and treatment of the affected patient.