[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.

[Results of long-term observation of extremely premature babies with retinopathy]. / Rezul'taty dlitel'nogo nablyudeniya gluboko nedonoshennykh detei s retinopatiei.

PURPOSE: To study the long-term clinical and functional outcomes of retinopathy in extremely premature infants. MATERIAL AND METHODS: The study included 42 patients (84 eyes) with retinopathy of prematurity (ROP) at the age of 9-18 years. All patients underwent comprehensive ophthalmological examination, including morphometric (OCT), functional (ERG) and psycho-physical (computer perimetry) methods. RESULTS: A high occurrence of low vision (67%) was revealed in extremely premature children with ROP during school years and adolescence, which depended on the severity of active ROP and the formation of pronounced residual changes in the fundus during the cicatricial phase of the disease, a high occurrence of refractive errors (92%), including high degree myopia (46%), late complications that develop with ROP of any degree (68%), impaired retinal electrogenesis - due to both ROP and deep morphological and functional immaturity of the retina. CONCLUSION: Patients with any degree of cicatricial ROP born in the early stages of gestation and with extremely low body weight need regular complex ophthalmologic examination and lifelong follow-up.

[Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation]. / Kliniko-anatomicheskie osobennosti vrozhdennogo mikroftal'ma i anoftal'ma u detei i konservativnye metody reabilitatsii.

AIM: To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. MATERIAL AND METHODS: A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). RESULTS: Basing on the examination RESULTS: we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. CONCLUSION: The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.