[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.

[Ocular blood flow and retinal electrogenesis in retinitis pigmentosa].

AIM: to investigate correlations between changes in ocular hemodynamics revealed by color Doppler flow mapping (CDFM) and pulsed-wave (PW) Doppler imaging, one the one hand, and electrical activity of the retina, on the other, in patients with early, moderate, and severe retinitis pigmentosa (RP). MATERIAL AND METHODS: A total of 20 patients (40 eyes) aged from 16 to 40 years (28.4 ± 8.2 years on average) with retinitis pigmentosa were enrolled. The control group consisted of 20 healthy volunteers of the same age range. All participants underwent full-field electroretinography (ERG), flicker ERG, and macular ERG as well as blood flow assessment in the ophthalmic artery (OA), central retinal artery (CRA), and short posterior ciliary arteries (SPCA) by means of CDFM and PW-Doppler. RESULTS: Ocular blood flow in CRA and SPCA appeared disturbed in patients with early RP. In cases of moderate and severe RP, the peak systolic velocity of CRA and SPCA blood flow was significantly decreased. Systolic and end diastolic blood flow velocities in CRA and SPCA has been shown to be directly related to full-field ERG a-wave and b-wave amplitudes, correspondingly, but negatively correlated with their implicit times. CONCLUSION: The revealed decrease in CRA and SPCA blood flow indices proves retinal and choroidal circulation deficit in patients with advanced RP. As shown, moderate blood flow changes are already present in early RP and progress as retinal photoreceptors and bipolar cells become suppressed, which may be useful for RP diagnosis and monitoring.