[Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)]. / Atrofiya girate khorioidei i setchatki s ornitinemiei i foveoshizisom (klinicheskoe nablyudenie).

Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.

[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia]. / Nasledstvennaya distrofiya setchatki: pervye rezul'taty posle RPE65-genozamestitel'noi terapii v Rossii.

PURPOSE: To present the main aspects of interdisciplinary diagnostics of patients with hereditary retinal diseases and the first results of the follow-up of patients with inherited retinal dystrophies (IRD) caused by biallelic mutations in the gene RPE65 after gene replacement therapy in Russia. MATERIAL AND METHODS: The cohort of patients consisted of six children (5-15 years old) with the diagnosis of Leber amaurosis type 2. All patients underwent a multi-disciplinary examination using conventional clinical, instrumental and molecular-genetic methods. Genetic diagnosis was established based on the results of two-stage DNA diagnostics using high-performance parallel sequencing of a custom panel and family segregation analysis by Sanger sequencing. RESULTS: In the Research Centre for Medical Genetics the first group of Russian patients with an orphan inherited retinal disease was verified, they underwent subretinal injection of the gene replacement drug Voretigene neparvovec (12 eyes) in the Helmholtz National Medical Research Center of Eye Diseases. According to the regulated terms of monitoring gene therapy patients, they were examined in the Research Centre for Medical Genetics after 1, 3, 6 and 12 months, and then once per year. Thus, the available data allows us to analyze the first results 3 months after the treatment. CONCLUSION: The presented data on inherited retinal dystrophies caused by biallelic mutations in the RPE65 gene emphasize the need to change the diagnostic algorithm in the ophthalmic practice. The use of clinical instrumental and molecular genetic diagnostic methods makes it possible to apply etiotropic treatment to patients with a disabling disease that was previously considered untreatable. The gene replacement drug Voretigene neparvovec registered in Russia showed irrefutable first positive results in all targeted patients.

[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]. / Belotochechnoe glaznoe dno (fundus albipunctatus) s mutatsiyami v gene RDH5 (klinicheskoe nablyudenie).

The article describes a clinical case of a 14-year old patient with RDH5 mutations (OMIM *601617) in patient with fundus albipunctatus (OMIM #136880) and characteristic biomarkers of this disease with previously described pathogenic variant of nucleotic sequence in exon 3 of the RDH5 gene (NM_002905.3:c.500G>A), causing a missense change (p.Arg167His) in heterozygous state and previously not described pathogenic variant of nucleotic sequence in exon 5 of the RDH5 gene (NM_002905.3:c.838C>T), leading to a missense change (p.Arg280Cys) in heterozygous state with characteristic biomarkers of the disease. Best-corrected visual acuity (BCVA) was 20/20. Nyctalopia was accompanied by reduced b-wave of scotopic (dark-adapted 0.01) ERG and decreased amplitude of a- and b-waves of maximum (dark-adapted 3) ERG. Decreased amplitude of the a- and b-waves of photopic (light-adapted 3) ERG and the amplitude of high-frequency (light-adapted 30 Hz) Flicker ERG shows the involvement of retinal cone system in the process. Fundus autofluorescence imaging of both eyes produced fuzzy and grainy images with slight hyperfluorescence of retinal flecks. Optical coherence tomography showed focal thickening centered in the photoreceptor outer segment corresponding to the multiple discrete albipunctate dots.

[Thickness of the retinal photoreceptor layers and the choroid, and bioelectrical activity of the macula in retinitis pigmentosa]. / Tolshchina fotoretseptornykh sloev setchatki, khorioidei i bioélektricheskaia aktivnost' makuliarnoi oblasti pri pigmentnom retinite.

PURPOSE: To assess the changes in photoreceptor retinal layers and the choroid in comparison with bioelectrical activity of the macula in patients with retinitis pigmentosa (RP). MATERIAL AND METHODS: The study included 10 patients (20 phakic eyes) with RP. Mean age was 27±18.5 years; mean best corrected visual acuity was 0.38±0.22. In addition to standard ophthalmological examination and fundus photography, each patient underwent an electrophysiological study on an electroretinograph MBN (Russia) recording general electroretinogram (ERG), maximal ERG (cone-rod response), 30 Hz flicker ERG and macular ERG (mERG). Choroidal thickness (CT) measurement and segmentation of the retina with following calculation of the thickness of different retinal layers was performed on SD-OCT RS-3000 Advance 'Nidek', Japan), it included obtainment of the 6-mm-diameter map in accordance with the Early Treatment Diabetic Retinopathy Study (ETDRS). RESULTS: The study revealed a decrease in thickness of the choroid, retina, and the photoreceptor layers: 1) the layer with photoreceptor outer segment (OS) and retinal pigment epithelium (RPE) and 2) the layer with photoreceptor inner segment (IS) and outer nuclear layer. Decreased thickness of these layers is associated with the reduction of bioelectric activity of the macula as seen with mERG. CONCLUSION: Decreased thickness of the retina, choroid and photoreceptor layers in all segments of the macula according to EDTRS standards is associated with reduced bioelectric activity of the macula recorded with mERG.