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Achromatopsia is a congenital autosomal recessive disorder characterized by decreased or absent cone’s function. Clinical symptoms include photophobia, nystagmus, low best corrected visual acuity, complete or incomplete color vision. Mutations in the CNGA3 and CNGB3 genes are responsible for approximately 70–80 % of all achromatopsia cases. The purpose: to evaluate the results of a comprehensive clinical and genetic examinations of four patients with an established diagnosis of achromatopsia. Onset of the disease in all patients was in the form of severe photophobia and nystagmus, appearing at the age from 1.5 to 11 months. According to optical coherence tomography exams were detected structural changes in neuroepithelium (three patients), varied from subfoveal disorganization of the photoreceptor outer segments with “blurring” of the external limiting membrane line and ellipsoid zone to subfoveal destruction of the photoreceptor outer segments and the presence of a slit defect. Out of seven identified mutations in the CNGA3 and CNGB3 genes, two were previously detected in Russian patients, and five were not detected in the Russian Federation.

This article focuses on the surgical treatment of the vitreomacular traction ( VMT) syndrome comparing vitrectomy with and without internal limiting membrane (ILM) removal. Patients were randomly divided into 2 groups. In the 1st group, the procedure was performed without the ILM removal. In the 2nd group, the surgery was performed with perifoveolar ILM removal. A comparative analysis revealed that an anatomical result was reached in both groups, but in the 1st group, the development of epiretinal fibrosis was observed in 35 % of the cases in the late postoperative period; and this was not observed in the 2nd group. Visual function recovery was faster in the 1st group, but at 1 year visit, data from both groups were comparable. Thus, the treatment method with surgical ILM removal is preferable, due to more stable anatomical result.

Introduction and purpose. Idiopathic macular hole (IMH) is an urgent medical and social problem of the population of developed countries. It is known that microinvasive 3-port vitrectomy with gas-air tamponade is a generally accepted method of surgical treatment of IMH. There is still no clear understanding of the reasons for incomplete functional success in this category of patients, despite the anatomical success. Thus, there is a need to develop and implement in clinical practice a modification of the ILM peeling technique for the treatment of small and medium-diameter of IMH, which would not be inferior in anatomical effectiveness to existing methods and would be accompanied by a less damaging effect on the structures of the retina. Material and methods. The study included 10 patients with a diagnosis of IMH, who underwent a 3-port microinvasive 25G vitrectomy with the preservation of foveal ILM. Results. The analysis of the clinical and functional results of surgical treatment of IMH with the foveal fragment left revealed the complete closure of the macular tear, the absence of gross defects of the ellipsoid zone, an increase in the values of the average visual acuity and microperimetry from the 1st month of dynamic observation. Conclusion. Thus, the proposed low-traumatic method of treating IMH with the preservation of foveal ILM provides a stable anatomical and functional result, the restoration of both morphological and functional parameters, and minimizes the mechanical impact on the retina in the fovea zone. Key words: macular rupture, internal limiting membrane, chromovitrectomy.

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