Health-Related Quality of Life Using the KIDSCREEN-27 Questionnaire among Adolescents with High Myopia.

Background/Objectives: The aim of the study was to explore Health-Related Quality of Life (HRQoL) using the KIDSCREEN-27 questionnaire among adolescents with high myopia (HM). Methods: Sixty-nine adolescents with HM and 71 healthy participants aged 12-17 years and their parents or legal guardians were enrolled in the study. Results: Adolescents with HM showed significantly lower scores on the Physical Well-Being dimension in comparison with controls (p = 0.003), particularly girls with HM in comparison with girls from the control group (p = 0.008), and 15-17-year-old adolescents in comparison with same-aged controls (p = 0.020). Girls with HM were characterised by significantly worse scores on the Psychological Well-Being dimension compared with boys with HM (p < 0.042). Sociodemographic factors and refractive error, its duration, and acceptance of disease had no impact on HRQoL. Conclusions: HM may have a negative impact on the HRQoL of children, affecting particularly the physical and psychological well-being of girls. It is important that a holistic approach to the treatment of HM in adolescents is taken by measuring their HRQoL as part of the routine diagnostic process. Use of the KIDSCREEN-27 questionnaire seems justified as it allows for determination of the type of intervention required to improve the HRQoL of individuals affected by the disease.

A Preliminary Study of the Occurrence of Genetic Changes in mtDNA in the Muscles in Children Treated for Strabismus.

Background: The dysregulation of extraocular muscles (EOMs) in the strabismus may be partly due to modification in the mitochondrial DNA (mtDNA). Currently, little is known about changes occurring in mtDNA of EOMs in patients with strabismus, therefore the aim of our study was to analyze if there are any changes occurring in the mitochondrial DNA of extraocular muscles in children that underwent strabismus surgery in our clinic. Methods: MtDNA was isolated from the tissue material using the Qiagen kit. Assessment of mtDNA mutations was performed by next-generation sequencing (NGS) using the Illumina MiSeq protocol. Results: The examination revealed the presence of atrophic changes in muscle fibers. NGS evaluation revealed a dominant genetic mutation in the ANT1 gene in 12 of the 15 patients examined. Conclusions: The presented results constitute the beginning of research on changes in mtDNA occurring in the muscles of children with strabismus surgery. Further studies are necessary in the context of resolving the transcriptomic differences between strabismic and non-strabismic EOMs. Better understanding of the molecular genetics of strabismus will lead to improved knowledge of the disease mechanisms and ultimately to a more effective treatment.

The Effectiveness of Laser Peripheral Iridotomy in Adolescent Eyes with Ocular Hypertension and Concave Configuration of the Peripheral Iris.

Purpose: To evaluate the efficacy of laser peripheral iridotomy (LPI) in preventing deterioration in eyes with ocular hypertension (OHT) and concave configuration of the iris. Materials and Methods: This was a retrospective study, which was carried out within a period of 3-5 years. Twenty-four patients with OHT and concave irises were treated with LPI and followed up periodically. IOP, central corneal thickness (CCT), anterior chamber depth (ACD), scleral spur angle (SSA), global neuroretinal rim (NRR) thickness, and global retinal nerve fiber layer (RNFL) were examined before and after LPI. Results: The average age of the 24 patients was 14.21 ± 1.41 (13-17.5) years on admission. The initial IOP of the 48 eyes was 23.21 ± 1.56 mmHg in RE and 22.96 ± 2.1 mmHg in LE before LPI. All 48 eyes had concave irises in both eyes. All eyes treated with LPI have shown iris flattening, which has persisted during follow-up (mean 1.54 ± 0.9 years). At the last follow-up visit, the average IOP was 17.58 ± 2.63 (14-21) mmHg in RE and 17.58 ± 2.86 (14-21) mmHg in LE, which was statistically lower than that of the baseline (p < 0.001). There were significant changes in SSA in both eyes and global RNFL in RE after LPI. Conclusions: In the current study, LPI resulted in an IOP-lowering effect and iris flattening in adolescent eyes with a concave configuration of the peripheral iris.

Acute Zonal Occult Outer Retinopathy in a Patient Suffering from Epilepsy: Five-Year Follow-Up.

We report an unprecedented case of a young patient with epilepsy coexisting with acute zonal occult outer retinopathy (AZOOR), a rare white dot syndrome of unknown etiology, associated with damage to the large zones of the outer retina. Recently, it has been established that epileptic episodes contribute to an inflammatory response both in the brain and the retina. A 13-year-old male patient with epilepsy was referred by a neurologist for an ophthalmologic consultation due to a sudden deterioration of visual acuity in the left eye. The examination, with a key role of multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography (ICGA), fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT) with visual field assessment, and electroretinography indicated AZOOR as the underlying entity. Findings at the first admission included enlargement of the blind spot in visual field examination along a typical trizonal pattern, which was revealed by FAF, ICGA, and SS-OCT in the left eye. The right eye exhibited no abnormalities. Seminal follow-up revealed no changes in best corrected visual acuity, and multimodal imaging findings remain unaltered. Thus, no medical intervention is required. Our case and recent laboratory findings suggest a causative link between epilepsy and retinal disorders, although this issue requires further research.

Endothelin-1 Serum Concentration in Pediatric Chronic Idiopathic Uveitis.

PURPOSE: The aim of our study was to determine endothelin-1 (ET-1) concentration in chronic idiopathic uveitis in children and adolescents depending on anatomical location and grade of inflammation. METHODS: The cross-sectional study was conducted among 17 patients with chronic idiopathic uveitis and 22 healthy controls. Concentration of ET-1 in serum was determined using a commercially available ELISA kit. The concentration of C reactive protein (CRP) in serum was determined by immunoturbidimetric method using CRP4 reagent kit (Roche Diagnostics GmbH, Mannheim, Germany). RESULTS: Statistically significant difference between ET-1 concentration in patients with chronic idiopathic uveitis and controls was found 1.33 (1.22; 1.48) vs 1.93 (1.1; 3.11), p = 0.008). No correlations were found between ET-1 concentration and age, either in chronic idiopathic uveitis patients or controls. Nine out of 17 patients presented with anterior uveitis, 5 with posterior and 3 with panuveitis. There were no differences in ET-1 concentration between anterior, posterior and panuveitis (p = 0.634), and in terms of grade of inflammation. CONCLUSION: ET-1 expression is disturbed in pediatric chronic idiopathic uveitis irrespective of the anatomical location and grade of inflammation. Lower expression of ET-1 plays a crucial role in disturbed vascular tone control and can result in permanent visual impairment in chronic non-infectious uveitis.

Effect of Repeated Intravitreal Ranibizumab and Aflibercept Injections on the Cornea in Patients with Age-Related Macular Degeneration.

PURPOSE: To assess the effect of repeated intravitreal ranibizumab injections (RI) and aflibercept injections (AI) on the corneal endothelium and central corneal thickness (CCT) in patients with age-related macular degeneration (AMD). MATERIALS AND METHODS: In the retrospective study, 110 eyes of 106 patients, aged 52 to 93 years, were analyzed. Fifty eyes were treated only with RI (I group), and 60 eyes were treated only with AI (II group). Every patient received one intravitreal injection of 0.5 mg of ranibizumab once a month or 2 mg of aflibercept for 3 subsequent months. Each patient received only 3 injections during the whole observation period. Corneal analysis was obtained with the specular microscope. Examinations were performed before initial treatment, after each injection, and 6 months after the first injection. Analysis included corneal endothelial cell density (ECD), hexagonal cell percentage (% Hex), coefficient of variation (CoV), and CCT. RESULTS: There was a statistically significant ECD loss, regardless of the type of the anti-VEGF agent. The mean ECD value in the I group was 2397 ± 459 cells/mm2 before RI, 2389 ± 459 cells/mm2 after the first RI, 2386 ± 467 cells/mm2 after the second RI, 2378 ± 475 cells/mm2 after the third RI, and 2357 ± 460 cells/mm2 6 months after the first RI. The mean ECD value in the II group was 2448 ± 493 cells/mm2 before treatment, 2456 ± 498 cells/mm2 after the first AI, 2426 ± 496 cells/mm2 after the second AI, 2402 ± 488 cells/mm2 after the third AI, and 2348 ± 473 cells/mm2 6 months after the first AI. In comparison with the group treated with RI, the group treated with AI presented a greater ECD loss at each measuring point. The percentage of hexagonal cells was decreased in both groups. There was a slight increase in polymegathism in both treated groups. Ranibizumab proved to cause a small increase in CCT, while CCT remained unchanged in the aflibercept group. CONCLUSIONS: Repeated intravitreal injections of 0.5 mg of ranibizumab or 2 mg of aflibercept can influence the morphology of the corneal endothelium but not CCT.

Endothelin-1 Serum Concentration is Lower in Children and Adolescents with High Myopia, a Preliminary Study.

The aim of this study is to evaluate the levels of enothelin-1 (ET-1) in children and adolescents with high myopia and its association with the axial length of the eye and the presence of myopic retinal degeneration. The cross-sectional study was carried out in 57 patients with high myopia and 29 control subjects. Serum concentrations of ET-1 were measured using enzyme-linked immunosorbent assay (ELISA) kit. A significantly lower concentration of ET-1 in highly myopic patients compared to controls was found (1.47 (0.91; 1.87) vs. 1.94 (1.1; 2.69) pg/mL, p = 0.005). In patients with high myopia, a weak negative correlation between ET-1 concentration and the longest axial length out of the two eyes was found (r = -0.255, p = 0.0558). Further analysis revealed statistically significant differences in ET-1 concentration between patients with the axial length of the eye > 26 and ≤ 26 mm (p < 0.041) and patients with the axial length of the eye > 26 mm and controls (p < 0.001). ET-1 expression is disturbed in highly myopic children and adolescents. Lower ET-1 concentration in patients with the axial length of the eye > 26 mm may co-occur with high myopia and should be considered a risk factor in the pathophysiology of high myopia progression.

Concentration of Zinc, Copper, Selenium, Manganese, and Cu/Zn Ratio in Hair of Children and Adolescents with Myopia.

The aim of this work was to determine the concentration of trace elements, zinc, copper, selenium, manganese, and Cu/Zn ratio, in scalp hair samples of children and adolescents with myopia. The study included 92 children (mean age 14.5 ± 2.5 years) with myopia and 43 healthy persons (mean age 11.8 ± 4.7 years). Each patient had a complete eye examination. Trace element concentrations in hair were determined by atomic absorption spectrometry. Cu/Zn ratio was also calculated. The zinc level in the hair of myopic patients was significantly higher (260 µg/g) in comparison to the control group (130 µg/g). There was a significantly lower Cu/Zn ratio in myopic patients (0.045) compared with controls (0.07). An insignificant difference was observed in the hair level of copper, selenium, and manganese between patients and controls. The results show that trace elements may play a significant role in the pathogenesis of myopia. Further studies should pay more attention to determine the effect of trace element on children myopia.

Citrate usage in the leading causes of blindness: new possibilities for the old metabolite.

INTRODUCTION: Citrate is an old metabolite which is best known for the role in the Krebs cycle. Citrate is widely used in many branches of medicine. In ophthalmology citrate is considered as a therapeutic agent and an useful diagnostic tool-biomarker. OBJECTIVES: To summarize the published literature on citrate usage in the leading causes of blindness and highlight the new possibilities for this old metabolite. METHODS: We conducted a systematic search of the scientific literature about citrate usage in ophthalmology up to January 2018. The reference lists of identified articles were searched for providing in-depth information. RESULTS: This systematic review included 30 articles. The role of citrate in the leading causes of blindness is presented. CONCLUSIONS: Citrate might help inhibit cataract progression, in case of questions confirm glaucoma diagnosis or improve cornea repair treatment as adjuvant agent (therapy of ulcerating cornea after alkali injury, crosslinking procedure). However, the knowledge about possible citrate usage in ophthalmology is not widely known. Promoting recent scientific knowledge about citrate usage in ophthalmology may not only benefit of medical improvement but may also limit economic costs caused by leading causes of blindness. Further studies on citrate usage in ophthalmology should continuously be the field of scientific interest.

Plasma citrate concentration: a possible biomarker for glaucoma in children.

OBJECTIVES: The main aim of the present study was to examine a possible role of plasma and urine citrate levels as glaucoma indicators in school-aged children with glaucoma diagnosis. PATIENTS: 34 school-aged children with a glaucoma diagnosis (mean age 15.69±1.86 years) were qualified for the study group and 34 patients with no ophthalmological ailments were qualified for the control group (mean age 16.1±1.98 years). Plasma and urine citrate levels in the study and the control group (Kruskal-Wallis test) were compared. RESULTS: Plasma citrate levels in the study (16.33±4.51 mg/L) and the control group (19.11±3.66 mg/L) were different; the statistical significance (p=0.0036). Plasma citrate concentrations were significantly lower in the study group in comparison with the control group. There were no statistically important differences between the study group (291.12±259.13 mg/24 hours; 275.82±217.57 mg/g) and the control group (434.88±357.66 mg/24 hours; 329.81±383.27 mg/g) including urine citrate level (p=0.052) and urine citrate to creatine ratio (p=0.4667). CONCLUSION: Plasma citrate concentration might be considered as glaucoma biomarker in paediatric population.

Serum Concentration of Zinc, Copper, Selenium, Manganese, and Cu/Zn Ratio in Children and Adolescents with Myopia.

The purpose of the present study was the assessment of the serum concentration of antioxidant microelements-zinc, copper, selenium, manganese, and Cu/Zn ratio in children and adolescents with myopia. Eighty-three children were examined (mean age 14.36 ± 2.49 years) with myopia. The control group was 38 persons (mean age 12.89 ± 3.84 years). Each patient had complete eye examination. The serum concentration of zinc, copper, manganese, and selenium was determined by atomic absorption spectrometry. Cu/Zn ratio, which is the indicator of the oxidative stress, was also calculated. The average serum concentration of zinc in myopic patients was significantly lower (0.865 ± 0.221 mg L-1) in comparison to the control group (1.054 ± 0.174 mg L-1). There was significantly higher Cu/Zn ratio in myopic patients (1.196 ± 0.452) in comparison to that in the control group (0.992 ± 0.203). The average serum concentration of selenium in the study group was significantly lower (40.23 ± 12.07 µg L-1) compared with that in the control group (46.00 ± 12.25 µg L-1). There were no essential differences between serum concentration of copper and manganese in the study group and the control group. Low serum concentration of zinc and selenium in myopic children may imply an association between insufficiency of these antioxidant microelements and the development of the myopia and could be the indication for zinc and selenium supplementation in the prevention of myopia. Significantly, higher Cu/Zn ratio in the study group can suggest the relationship between myopia and oxidative stress.

The differences in level of trait anxiety among girls and boys aged 13-17 years with myopia and emmetropia.

BACKGROUND: A significant increase in myopia among children and teenagers can be observed all over the world. Yet at the same time, there is still an insignificant number of studies concerning this health problem. The aim of this study was to assess the level of trait anxiety among myopic group of teenagers in comparison to teenagers with emmetropia, and to confirm whether the level of trait anxiety relates to age and gender. METHODS: Two hundred thirty-nine students aged 13-17 years were included in the study. The study group comprised 114 persons with myopia (81 girls and 33 boys), while the control group comprised 125 persons without refractive error (79 girls and 46 boys). Volunteers completed a set of questionnaires including: personal data, State-Trait Anxiety Inventory for Children (STAIC) (13-14 year-olds), or State-Trait Anxiety Inventory (STAI) (15-17 year-olds). The trait anxiety subscales were thus analyzed. RESULTS: Among younger adolescents (13-14 years of age) with myopia there was a significantly higher incidence of pathological intensification of anxiety as a constant trait. After taking into account the distribution of gender, there was a higher level of trait anxiety in the group of boys with myopia than in the control group aged 13-17 years and 13-14 years. There was also a higher level of trait anxiety detected in males than in females. CONCLUSIONS: Myopia may affect the level of trait anxiety among 13-14-year-olds. In both age groups of girls, a higher percentage of patients with high level of anxiety was discovered (≥7 sten), as compared to their peers without vision defects. Our results can contribute to a more accurate analysis of young teenagers' psychological problems, especially among boys diagnosed with myopia.

The assessment of multifocal ERG responses in school-age children with history of prematurity.

PURPOSE: The authors examined macular function in preterm-born children, using multifocal ERG (mfERG). Possible alterations in P1 amplitudes, P1 amplitudes density and P1 implicit time between school-age children with history of prematurity and their peers were researched. The correlations between parameters of mfERG responses and birth weight, gestational age, macular volume and central macular thickness were verified. METHODS: A group of 18 preterm-born school-age children were analyzed (mean age 10.18 ± 1.21 years). The study group was compared to the group of 15 peers born appropriate for gestational age (mean age 10.8 ± 1.52 years). The mfERG was evaluated in all children. RESULTS: There were statistically significant differences for P1 amplitudes from ring 1 (p = 0.0001) and P1 amplitudes density from ring 1 (p = 0.0001). Calculating the correlation coefficients, we receive significant results for P1 amplitudes from ring 1 versus gestational age (r = 0.54; p = 0.026), birth weight (r = 0.54; p = 0.026) and central macular thickness (r = -0.62; p = 0.008), and for P1 amplitudes density from ring 1 versus central macular thickness (r = -0.51; p = 0.034). CONCLUSIONS: The study suggests that P1 amplitudes and P1 amplitudes density vary in preterm-born children in comparison with their peers born appropriate for gestational age, which might suggest discreet macular dysfunction. The correlation between low birth weight, early gestational age, central macular thickness and mFERG components from ring 1 might evidence that decreased bipolar cells density caused by premature birth is the result of altered development of central retina reflecting in structural anomalies of the fovea.

Assessment of therapeutic options for reducing alkali burn-induced corneal neovascularization and inflammation.

This article aims to review and provide the current knowledge of the possibilities of topical treatment of corneal neovascularization due to alkali burns, evidenced by laboratory experiments, in vitro studies, and clinical trials published in the specialized literature. Authors present clinically relevant treatment of corneal neovascularization used in clinical practice, potential antiangiogenic topical therapeutics against corneal neovascularization, which are under investigation, and anti-angiogenic gene-therapy.

Central nervous system tumour diagnosis in pediatric population ­ the role of an ophthalmologist and the utility of visual evoked potentials.

Objective: To determine possible alterations of P100 and P1 amplitudes and latencies in school-aged children with a history of a central nervous system tumour. Material and methods: The pattern visual evoked potential and flash visual evoked potential testing was performed in 42 school- -aged children: 15 patients with a history of the central nervous system tumour (mean age of 13.44 ± 2.41 years and 13.75 ± 2.29 years, respectively) and 27 healthy subjects as a control group (mean age 11.84 ± 1.44 years, and 14.78 ± 4.26 years, respectively). Results: P100 amplitudes of pattern visual evoked potentials were statistically decreased in the study group as compared to the control group. The only statistically signifcant difference between the study group and the controls was latencies recorded from O1 in 15-minute stimuli. P2 amplitudes of flash visual evoked potentials were decreased and latencies were increased in the study group, however, the differences were not statistically significant. Conclusions: Visual evoked potential alterations can be a sign of functional disturbances of the visual system in patients with any central nervous system tumour. Therefore, a diagnostic process of a central nervous system tumour should include a thorough ocular exam, even in patients with normal visual acuity.

Traumatic hyphema in children and adolescents ­ aetiology and treatment.

Purpose: Retrospective analysis of patients with traumatic hyphema, including type of injury, treatment and visual outcome. Material and methods: We analysed a cohort of patients after blunt trauma, who were examined and treated between 2011­ ­2015. In each case, the baseline and ultimate visual acuity was determined, followed by slit lamp examination, intraocular pressure measurement, indirect binocular ophthalmoscopy of the fundus, ultrasound scan and OCT Visante. The type of treatment as well as duration of inpatient treatment and late complications were assessed for each case. Results: 45 patients (45 eyes) with traumatic hyphema due to blunt ocular trauma were enrolled. 42 of them were boys (93.3%), and 3 were girls (6.7%). The age range was 2.5­17.5 years (mean age of 11.92 ± 3.75 years). Upon admission, 10 (22.2%) children had full visual acuity (1.0). The most common injuries concomitant with hyphema included iridodialysis, corneal oedema, mydriasis and corneal erosion. Secondary hemorrhage occurred three days following injury in only one (2.2%) patient. The mean duration of inpatient admission was 4.3 days (ranged from 2 to 8 days). At the last follow-up visit, 36 (80%) patients had a full visual acuity of 1.0. Conclusions: Visual outcomes improve with earlier treatment commencement. Conservative management was sufficient to resolve traumatic hyphema in reported cases

Evaluation of macular structure and thickness using spectral optical coherence tomography SOCT Spectralis in children after prior laser photocoagulation performed due to the retinopathy of prematurity. / Ocena struktury i grubosci siatkówki w okolicy plamkowej za pomoca spektralnej optycznej koherentnej tomografii SOCT Spectralis u dzieci po przebytej laserokoagulacji siatkówki z powodu retinopatii wczesniaków.

Objectives: To evaluate morphobiometric properties of the macula (its structure and thickness) in children with a known history of retinopathy of prematurity using optical coherence tomography (SLO/OCT Spectralis). Material and methods: 16 subjects (group B1) (mean age 9.2 years) with a history of stage 3 retinopathy of prematurity treated with retinal laser photocoagulation and 18 subjects (group B2) with a history of spontaneously regressing retinopathy of prematurity (mean age 10.2 years) were studied prospectively. The control group consisted of 21 healthy subjects (group K) (mean age 10.9 years). Each participant underwent a thorough ocular examination and had an optical coherence tomography performed. The U Mann-Whitney and Spearman's rank correlation tests were used for statistical analyses. Results: The minimum central foveal thickness and total macular volume were significantly higher in both study groups (B1 and B2) as compared to the control group (K). The subfoveal choroidal thickness was reduced in both study groups (B1 and B2), as compared to the control group (K). Conclusions: The altered macular structure in eyes with the history of retinopathy of prematurity is related to the presence of all retinal layers within the fovea. However, these changes do not significantly affect visual acuity.

The opinion of the Expert Group of the Polish Society of Ophthalmology on using nepafenac in the prevention of postoperative macular edema after cataract surgery in diabetic patients.

Nepafenac is an innovative non-steroidal anti-inflammatory drug used in ophthalmology for the prevention of macular edema after cataract surgery. Along with its anti-inflammatory effect, nepafenac has some unique properties which distinguish it from other non-steroidal anti-inflammatory drugs. It is a prodrug activated to amfenac after it penetrates through the corneal layers to the aqueous humour and the ciliary body. Having electrically neutral molecules of lipophilic properties, nepafenac does not accumulate in the cornea and does not cause its degeneration. Additionally, it quickly achieves higher concentrations in the aqueous humour as compared to other non-steroidal anti-inflammatory drugs. Nepafenac shows high selectivity and activity against COX-2 isoform, the key enzyme implicated in inducing inflammation, which is the main cause of macular edema. Furthermore, nepafenac has the unique scleral and suprachoroidal distribution pathways. Finally, its effect on the intraocular pressure is none to negligible. Nepafenac treatment should be initiated prior to cataract surgery and continued long enough to reduce the risk of late-onset macular edema. The Expert Group of the Polish Society of Ophthalmology consider using nepafenac in the prevention of post­operative macular edema in diabetic patients undergoing cataract surgery as expedient and reasonable. The proposed optimum pre- and postoperative treatment regimen can be modified for individualised therapy.

An Influence of Birth Weight, Gestational Age, and Apgar Score on Pattern Visual Evoked Potentials in Children with History of Prematurity.

PURPOSE: The objective of our study was to examine a possible influence of gestational age, birth weight, and Apgar score on amplitudes and latencies of P100 wave in preterm born school-age children. MATERIALS AND METHODS: We examined the following group of school-age children: 28 with history of prematurity (mean age 10.56 ± 1.66 years) and 25 born at term (mean age 11.2 ± 1.94 years). The monocular PVEP was performed in all children. RESULTS: The P100 wave amplitudes and latencies significantly differ between preterm born school-age children and those born at term. There was an essential positive linear correlation of the P100 wave amplitudes with birth weight, gestational age, and Apgar score. There were the negative linear correlations of P100 latencies in 15-minute stimulation from O1 and Oz electrode with Apgar score and O1 and O2 electrode with gestational age. CONCLUSIONS: PVEP responses vary in preterm born children in comparison to term. Low birth weight, early gestational age, and poor baseline output seem to be the predicting factors for the developmental rate of a brain function in children with history of prematurity. Further investigations are necessary to determine perinatal factors that can affect the modified visual system function in preterm born children.

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inheritance and is caused mostly by mutations in the RDH5 gene. This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase. This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. We present a novel pathogenic RDH5 gene mutation in a 16-year-old female patient with symptoms of night blindness. The patient underwent ophthalmological examinations, including colour vision testing, fundus photography, automated visual field testing, full-field electroretinography (ERG) and spectral optical coherent tomography (SOCT). The patient showed typical FA ERG records, the visual field was constricted and fundus examination revealed numerous characteristic, small, white-yellowish retinal lesions. DNA sequencing of the RDH5 gene coding sequence (exons 2-5) enabled the detection of the homozygous missense substitution c.524A > T (p.Tyr175Phe) in exon 3. This is the first report of RDH5 gene mutation that affects the invariant tyrosine, one of the most conserved amino acid residues in short-chain alcohol dehydrogenases/reductases (SDRs), crucial for these enzymes' activity. The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient.