Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Retinoid acid receptors (RAR) are transcription factors that bind retinoic acid (RA), a metabolite of vitamin A. RARs are composed of three subunits encoded by RARA, RARB and RARG. In humans, RARB defects cause syndromic microphthalmia. So far, no germline pathogenic variants have been identified in RARA or RARG. We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). RARA Arg276 residue is functionally important, as it was previously shown that its substitution for Ala or Gln causes a 50- or 21-fold impairment of RA binding, respectively. Moreover, in leukemic cells, the p.Arg611Trp mutation in a chimeric PML/RARA gene (corresponding to the RARA p.Arg276Trp detected in our patient) conferred resistance to therapy by decreasing binding of all-trans RA. The functional effect of RARA p.Arg276Trp was further confirmed by in silico modeling which showed that binding of RA by the Trp276 variant was similarly defective as in the deleterious model Ala276 mutant. We propose that RARA p.Arg276Trp causes the disease by affecting RA interaction with the RARA receptor.

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.

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.

Paediatric normative data for urine NGAL/creatinine ratio.

AIM: The objective of this study was to establish age-dependent urine NGAL (neutrophil gelatinase-associated lipocalin)/creatinine ratio values in healthy children and adolescents. METHODS: The study was performed using a random sample of 172 healthy children and adolescents (M-88, F-84), aged median 9.75 (0.2-17.9) years. Urine NGAL concentration was measured using a commercially available ELISA kit (R&D Systems, USA). RESULTS: Median concentrations of urine NGAL/creatinine in particular age groups were analysed using anova. The differences between the youngest group of children under the age of 6 years and the rest of examined population were statistically significant. There were no differences in urine NGAL/creatinine between other age groups. Statistically significant negative correlation between urine NGAL/creatinine and age of subjects was found (r = -0.29, p < 0.05). CONCLUSION: In the study, normative values of urine NGAL/creatinine for subjects aged 0.2-17.9 years have been established. These data may help clinicians and researchers to improve the interpretation of urine NGAL/creatinine ratio in children and adolescents. However, further studies using numerous data should be conducted to add reference values for urine NGAL partitioned by age and gender.

[Macular morphology and peripapillary retinal nerve fiber layer thickness in children with regressed retinopathy of prematurity]. / Morfologia siatkówki w plamce i grubosc warstwy wlókien nerwowych tarczy nerwu wzrokowego u dzieci z przebyta retinopatia wczesniaków.

PURPOSE: morphobiometric evaluation of macula and peripapillary retinal nerve fiber layer thickness with the use of high-resolution optical coherence tomography in children with a history of regressed retinopathy or prematurity. MATERIALS AND METHODS: 18 patients at the age of 8 to 14 years with a history of spontaneously regressed retinopathy of prematurity were studied prospectively. For statistical purposes a control group of 21 matched subjects at the age of 8 to 15 years was used. Ophthalmic examination and optical coherence tomography were performed in each patient. Peripapillary nerve fibre layer thickness, foveal and parafoveal thickness ratio, total macular volume and subfoveal choroidal thickness were measured in both groups. RESULTS: in the optical coherence tomography, the foveal thickness in children with retinopathy of prematurity was significantly higher [269.5 µm (232-321)] compared to the controls [224.5 µm (207-267)]. The macular volume in the study group was also higher (8.68 mm³). The subfoveal choroidal thickness was reduced in study group [321 µm (112-365)] compared to the control group [337 µm (294-358)]. There was no statistical significant difference in total peripapillary nerve fibre layer thickness between the two groups. CONCLUSION: The morphobiometric macular changes in eyes with a history of regressed retinopathy of prematurity are possibly related to the developmental abnormalities, which retinopathy of prematurity is due to the presence of the abnormal foveal structure across all retinal layers.

[Assessment of macular and optic disc morphology in children with unilateral hypermmetropic amblyopia]. / Ocena morfologii siatkówki w plamce oraz tarczy nerwu wzrokowego u dzieci z jednoocznym niedowidzeniem nadwzrocznym.

PURPOSE: To investigate macular thickness and retinal nerve fiber layer thickness of the optic disc using high resolution spectral optical coherence tomography. MATERIAL AND METHODS: A study group consisted of 54 eyes of children aged from 5 to 13 years with unilateral hypermmetropic amblyopia. 25 children aged from 6 to 14 years with emmetropia or mild hyperopia (SE less than +1.0 D) were recruited as a reference group. All patients underwent a comprehensive ocular examination, including Scanning Laser Ophthalmoscope/Optical Coherence Tomography scans of the macula and the optic disc. The total macular volume, minimal central foveal thickness, parafoveal and perifoveal retinal thickness, global retinal nerve fiber layer thickness and in 4 quadrants were assessed using Statistica 10.0. RESULTS: The total macular volume was significantly higher in amblyopic as compared to non-amblyopic eyes--8.9 (8.09-9.27) in the study group, 8.3 (7.17-9.32) in the reference group respectively. However, the retinal nerve fiber layer was significantly thinner in amblyopic eyes. CONCLUSIONS: Amblyopia does not affect retinal thickness symmetry between the right and left eye. The analysis of Scanning Laser Ophthalmoscope/Optical Coherence Tomography morphometric parameters in amblyopic eyes is useful only when compared with the age-matched reference group. hypermmetropic amblyopia, macular retinal thickness, retinal nerve fiber layer thickness, spectral optical coherence tomography.

[Evaluation of anterior chamber depth measurements in emmetropic, hypermetropic and myopic eyes in children and adolescents using OCT Visante]. / Ocena przedniego odcinka oczu normowzrocznych, nadwzrocznych i krótkowzrocznych u dzieci i mlodziezy za pomoca optycznej koherentnej tomografii OCT Visante.

PURPOSE: To evaluate the anterior chamber depth (ACD) measurements in emmetropic, hypermetropic and myopic eyes in children and adolescents using optical coherence tomography (OCT). MATERIAL AND METHODS: 86 patients at the age from 4 to 17 years were examined. 27 patients with mean age 14.0 +/- 2.94 years had myopia with spherical equivalent refraction (RE) from -0.50 to - 19.50 D (mean RE = -8.63 +/- 3.89 D). 29 patients with mean age 8.7 +/- 1.95 years had hypermetropia with RE from +0.50 to +9.00 D (mean RE = +4.49 +/- 2.11 D). 30 patients control group) with mean age 9.8 +/- 1.03 years had emmetropia. The anterior chamber depth was measured by OCT Visante. In myopic eyes measurements of axial length were obtained using ultrasound A scan. RESULTS: 172 eyes (86 subjects) were evaluated. The mean ACD measurement was 3.18 +/- 0.31 mm in myopic eyes, 2.73 +/- 0.2 mm in hypermetropic eyes, and 2.92 +/- 0.11 mm in emmetropic eyes. There were significant differences in ACD between these three groups of eyes (p<0.01). ACD was correlated with spherical equivalent refraction (Spearman correlation, r = -0.688, p<0.001), and axial length (r = 0.388, p = 0.003) in myopic eyes. There were no statistically significant differences in ACD between 30 eyes of 15 patients with anisometropia >3.00 D. CONCLUSIONS: There were significant differences in ACD between emmetropic, hypermetropic and myopic eyes in children and adolescents. ACD was associated with refractive error and axial length in the eyes with myopia. Further observations are necessary on larger number of patients.

[Idiopathic intracranial hypertension and organ of vision]. / Idiopatyczne nadcisnienie sródczaszkowe a narzad wzroku.

Idiopathic intracranial hypertension (IIH) is defined as a syndrome of increased intracranial pressure without causative lesions on magnetic resonance imaging. The symptoms of IIH patients are headache, transient visual obscurations, photopsia, retrobulbar pain, diplopia, visual loss and papilledema. Management of intracranial hypertension is initially medical, using a combination of managed weight body reduction and diuretic, non-steroid and steroid therapy. Surgical therapy may be required to stabilize vision.

[Optic nerve head drusen in children--visual function and OCT outcomes]. / Druzy tarczy nerwu wzrokowego u dzieci- -funkcja widzenia a obraz OCT.

PURPOSE: To evaluate the effect of optic nerve head drusen on retinal nerve fiber layer (RNFL) thickness in children, with the use of optical coherence tomography (OCT). MATERIAL AND METHODS: 21 patients (mean age 13.9 years) with optic nerve head drusen were studied prospectively. For statistic comparison a group of 15 control subjects (mean age 14.1 years) participated. Ophthalmologic examination, automated visual field testing and optical coherence tomography were performed in each patient. For statistical analysis we used Shapiro-Wilk and U Mann-Whitney tests. RESULTS: In the OCT measurements the nasal RNFL was significantly thinner as compared to the reference group. Neither statistically significant thinning of global RNFL between groups nor relation between subjects age and RNFL thickness was found. CONCLUSIONS: Optic nerve head drusen can lead to visual function defects, therefore early and correct diagnosis is mandatory. Optical coherence tomography is a usefull diagnostic tool used to determine the cause of disc elevation, which is especially important in childhood, when drusen can cause disc to appear papilledema-like. Overall OCT appears to be a non-invasive, sensitive and early-indicating method of RNFL thinning.

[Assessment of retinal ganglion cells thickness in high myopia]. / Ocena grubosci komórek zwojowych siatkówki w przebiegu wysokiej krótkowzrocznosci.

PURPOSE: Studies on glaucoma markers have shown that assessment of thickness macular ganglion cell complex plays an important role in diagnosis of early stage open-angle glaucoma. There are no available data on thickness in ganglion cell complex in high myopic patients. We investigate thickness of macular ganglion cell complex in children with high myopia. MATERIAL AND METHODS: 38 children (aged from 9 to 19 years), with high myopia (over -6.00 D) underwent full ophthalmological examination, including SD-OCT of the macula and optic disc. The reference group consisted of 38 emmetropic or slightly hyperopic children aged from 8 to 18 years old. RESULTS: Superior and interior ganglion cell complex (GCC) thickness were significantly lower in high myopic group compared to reference group: p < 0.01, respectively for GCC Sup. median was 90 microm (range 67-108.5) and 95 microm (range 80-105.5); for GCC Inf. median was 91 microm (range: 67-109.5) and 98 microm (range 85-109). Positive correlation between GCC and Total RNFL was found. CONCLUSIONS: In children with high myopia thinning of macular ganglion cell complex and retinal nerve fiber layer of the optic disc was found. These changes may be responsible for higher suspectibility of developing open-angle glaucoma in high myopic eyes. macular ganglion cell complex, high myopia, spectral optical coherence tomography.

[Optical coherence tomography in diagnosis of intracranial hypertension in children]. / Optyczna koherentna tomografia w diagnostyce nadcisnienia wewnatrzczaszkowego u dzieci i mlodziezy.

UNLABELLED: Intracranial hypertension (IH) is important cause of optic disc edema. It is essential to distinguish the primary and secondary causes of IH. Persistent increasement of intracranial pressure over 200-250 mmH2O is caused by impairment of the balance between production and absorption of cerebrospinal fluid. Though the exact mechanism of IH is still unknown. PURPOSE: Assessment of usefulness of spectral optical coherence tomography with dual beam eye tracking (SLO/OCT) in diagnosis of intracranial hypertension in children. MATERIALS AND METHODS: 4 children (at the age of 3-12 years) with IH underwent an comprehensive ophthalmological examination, including visual acuity testing (Snellen charts), color vision (Ishihara charts), evaluation of anterior and posterior segment of the eye in slit lamp. On SLO/OCT (Spectralis, Heidelberg) scans RNFL profile of the optic disc was assessed at admission day and after 8 weeks of treatment with oral diuretics. In all patients MRI of the central nervous system was performed. RESULTS: In all children best corrected visual acuity and MRI scans were normal. 3 of 4 patients had secondary IH. Median global RNFL was 273 microm at admission day. In 3 of 4 children remission of optic disc edema was observed after 8 weeks of treatment with diuretics - median global RNFL was 138 microm. CONCLUSIONS: Diagnosis of intracranial hypertension requires interdisciplinary cooperation. SLO/OCT is useful in monitoring remission of the optic disc edema.

[Estimation of morphology and function of the eye in Usher's syndrome]. / Ocena morfologii plamki oraz funkcji narzadu wzroku w przebiegu zespolu Ushera.

PURPOSE: Retinitis pigmentosa (RP) is a set of heterogenous retinal diseases that affect primarily photoreceptors and retinal pigmented epithelium. The Usher's syndrome (RP associated with hearing impairment or loss), is responsible for about 10-20% of all cases. We investigate macular morphology using spectral domain optical coherence tomography in correlation with visual function. MATERIAL AND METHODS: Two patients with Usher syndrome: a 13 years old girl and her 9 years old sister underwent comprehensive ophthalmological examination including: BCVA testing (Snellen charts), biomicroscopy of the anterior and posterior segment of the eye, electroretinography and SD-OCT scans of the macular region. RESULTS: BCVA was noticeable decreased in both eyes (Vod = 5/16, Vos = 5/16), of 13 years old patient, while it was slightly diminished in her younger sister (Vod = 5/6, Vos = 5/6). In patient with visual deterioration a blue cone deficiency was found. Central foveal thickness (CFT) and foveal outer segment/pigment epithelium thickness (FOSPET) was significantly reduced in 13 years old patient. CONCLUSIONS: Spectral optical coherence tomography is a useful method to monitor morphological changes of the macula and their progress in patients with retinitis pigmentosa in Usher's syndrome.

[Ergonomics in computerized workplace--an ophthalmological view]. / Ergonomia pracy przy komputerze--spojrzenie okulisty.

Ergonomics in computerized workplace contributes to create special environmental conditions depending on people's needs and possibilities. Ergonomically created room with accurate type of lighting, temperature and humidity, furniture and location of PC unit and monitor is essential to avoid symptoms of computer stress syndrome.

Assessment of visual function in children with foldable intraocular lens implants.

PURPOSE: The aim of the current study was to assess the results of cataract surgery involving implantation of foldable intraocular lenses in children. MATERIAL AND METHODS: Cataract surgery with foldable lenses was performed in 60 children. Postoperative visual acuity, endothelial cell density, corneal pachymetry, postoperative astigmatism and complications were analyzed. RESULTS: Quick visual recovery was observed in children after surgery. Only a few postoperative complications occurred. CONCLUSIONS: The foldable intraocular lenses are easy to insert. The surgical procedure with foldable lens implantation is a useful and safe method of treatment.