Saratov JOURNAL of Medical and Scientific Research

Moscow Helmholtz Research Institute of Eye Diseases

Rod-cone dystrophy with mutation in GUCY2D gene (clinical case)

Year: 2018, volume 14 Issue: №4 Pages: 928-931
Heading: Ophtalmology Article type: Case report
Authors: Zolnikova I.V., Kadyshev V.V., Zinchenko R.A., Egorova I.V.
Organization: Moscow Helmholtz Research Institute of Eye Diseases, Research Centre for Medical Genetics
Summary:

The cinical case of rod-cone dystrophy (retinitis pigmentosa sine pigmento) in a patient with mutation in GUCY2D gene is described Mutations in GUCY2D gene are the common cause of Leber Congenital Amaurosis (LCA1, OMIM 204000), central areolarchoroidal dystrophy (CACD1 OMIM 215500), mutations in heterozygous, compound heterozygous and homozygous state are described in cone dystrophy CORD6 (OMIM 601777), but have not been described in rod-cone dystrophy. In patient who complained of nictalopia decrease of the best corrected visual acuity to 0.7 OD and 0.9 OS was revealed. Maximal electroretinogram was subnormal, which indicated decrease in the function of peripheral retina. 30 Hz flicker and macular ERG were within normal range. Not described previously as pathogenic variant of nucleotide sequence in exon 11 of GUCY2D gene (chrl 7:7916486G>A), causing missense mutation (p. Gly727Ser, NM_000180.3) in heterozygous state in patient was revealed. Thus we are first to describe genotype-phenotype associations of rod-cone degeneration with mentioned above pathological in GUCY2D gene.

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Modifications of trabeculectomy in glaucoma treatment

Year: 2018, volume 14 Issue: №4 Pages: 831-833
Heading: Ophtalmology Article type: Original article
Authors: Kiseleva О.А., Bessmertny A.M., Suleiman Е.А., Lugovkina K.V.
Organization: Moscow Helmholtz Research Institute of Eye Diseases
Summary:

Purpose: to study efficacy of new trabeculectomy modifications for surgical treatment of primary open- angle glaucoma (POAG). Material and Methods. 49 patients with POAG (49 eyes) aged 51-73 years underwent modified surgery. The main technique of first new modification includes preparation of scleral flap, excision of trabecular tissue along the scleral spur, torsion of scleral flap for 180° and reposition of scleral flap in its original bed secured with interrupted nylon sutures (group 1). The main technique of second new modification includes preparation of scleral flap, excision of trabecular tissue, sewing of scleral flap in the middle with resorbable thread and tightening it into folds. Reposition and fixation of scleral flap and conjunctival flap closure completes the operation (group 2). The efficacy of new modifications of trabeculectomy was assessed during 12 months using complete ocular examination, optical coherence tomography of the anterior segment of the eye (ASOCT) in the early postoperative period and ultrasound biomicroscopy (UBM) subsequently. Results. One month after the surgery average intraocular pressure (ave. IOP) was 10.1±1,9 mmHg in group 1 and 11.2± 1.8 mmHg in group 2 (M±a). At 6 months this parameter was 12.6±3.0 mmHg (group 1) and 13,3±2,7 mmHg (group 2). At 12 months ave. IOP was 15.9±4.1 mmHg (group 1)and 17.3±2.7 mmHg (group 2). Conclusions. The newly developed modifications of trabeculectomy allow to obtain a prolonged hypotensive effect after surgical treatment of POAG.

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Surgical method for prevention of scaring in conducting sinustrabeculectomy

Year: 2017, volume 13 Issue: №2 Pages: 372-375
Heading: Ophtalmology Article type: Original article
Authors: Zhuravleva A.N., Suleiman Е.А., Kiseleva О.А.
Organization: Moscow Helmholtz Research Institute of Eye Diseases
Summary:

Prolonged hypotensive effect in the postoperative period is one of the main tasks of modern glaucoma surgery. In connection with this, the aim of our study is to develop a surgical method of prevention of scarring during the classical sinustrabeculectomy. Material and Methods. The operation was performed in 13 patients (13 eyes) with primary open angle glaucoma (POAG) ll-lll (B-C) in steps aged 50-70 years. The duration of observation up of 2 year. Results. After 9-12 months of hypotensive efficacy was 100% (13 eyes) in 20-24 months — 98% (12 of 13 eyes). The result was confirmed using standard methods of examination (visometry, tonometry, computerized perimetry, tonography et al.), in the early postoperative period was performed optical coherence tomography of the anterior segment, then — ultrasound biomicroscopy. Conclusions. Developed a new version of the surgical treatment of glaucoma a long-acting hypotensive effect.

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