Use of Corneal Topography in Pediatric Ophthalmology.

AIM: To introduce the topic of pediatric keratoconus, highlighting the importance of routine corneal topography and tomography in children and adolescents from predisposed groups. To attempt to ensure the early detection of keratoconus and its subclinical form, enabling early treatment, which brings better expected postoperative results.  Material and methods: Using the corneal tomograph Pentacam AXL we examined children and adolescents with astigmatism equal or greater than  2 diopters (in at least one eye) and patients with at least one risk factor such as eye rubbing in the case of allergic pathologies, positive family history of keratoconus or certain forms of retinal dystrophy. In total, we included 231 eyes (116 patients), of which 54 were girls and 62 were boys. RESULTS: The Belin-Ambrósio deviation index parameter was evaluated, in which we classified a total of 41 eyes as subclinical keratoconus and 12 eyes as clinical keratoconus. Next, the corneal maps were evaluated individually, in which we included a total of 15 eyes as subclinical keratoconus and 6 eyes as clinical keratoconus. In our group, compared to the control group, subclinical and clinical keratoconus occurred most often in the group of patients with astigmatism and in the group of so-called "eye rubbers". After individual evaluation, keratoconus occurred more frequently in boys than in girls in our cohort. CONCLUSION: Most patients with keratoconus are diagnosed when there is a deterioration of visual acuity and changes on the anterior surface of  the cornea. Corneal topography and tomography allows us to monitor the initial changes on the posterior surface of the cornea, and helps us to detect the subclinical form of keratoconus and the possibility of its early treatment. Therefore, it is important to determine which groups are at risk and groups in which corneal topography and tomography should be performed routinely.

LATE CHOROIDAL NEOVASCULAR COMPLICATIONS IN A PATIENT TREATED FOR RETINOBLASTOMA. A CASE REPORT.

AIM: Case report of choroidal neovascularization (CNV) detection in patient who was treated for bilateral retinoblastoma in early childhood. MATERIAL AND METHODS: Patient at 1.5 years of age treated for endophytic retinoblastoma stage 4 (according to the Reese-Ellsworth classification) bilaterally, with a positive mutation in the Rb1 gene. After undergoing bilateral retinal laser treatment and 6 cycles of systemic chemotherapy, the tumor remained inactive without other complications. At the age of 14, the boy developed visual impairment in his left eye with metamorphosis. Based on a local finding and other auxiliary examinations, he was diagnosed with CNV in the macular area at the interface of the tumor scar and the healthy retina of the left eye. RESULTS: After three applications of anti-VEGF (antibodies blocking vascular endothelial growth factor) substance intravitreally (bevacizumab 1.2 mg), there was a reduction in CNV and also an improvement in visual function.

Incomprehensible treatment of retinoblastoma with high doses of vitamin C.

PURPOSES: To inform about a case of neglected retinoblastoma that was left untreated for more than 3 years by parents. During this time period the local finding worsened from endophytic retinoblastoma group B according IIRC (ABC classification) to extraorbital propagation. BACKGROUND: Retinoblastoma is the most common intraocular tumor in childhood, that occurs approximately in 1 : 15-20 000 births worldwide. In European region cases of extraocular propagation are very infrequent. Extraorbital propagation is extremely rare in middle and high income countries. METHODS: We report the preoperative ophthalmological findings, MRI imaging, treatment methods and postoperative results of this case. RESULTS: After initial dose of six courses of chemotherapy patient underwent surgery (orbital exenteration). In postoperative period patient received two more courses of chemotherapy. In spite of progressed stage of the disease, we obtained good results with our therapy. CONCLUSIONS: We suppose that good treatment results, in spite of extraordinary long lag interval and hopeless pretreatment condition, caused by alternative therapy with high doses vitamin C and no protein intake, were caused by therapeutic naïve retinoblastoma with an absence of RB1 gene mutation (Fig. 6, Ref. 7).

Why is it necessary to examine retina when the patient suffers from aplastic anemia?

PURPOSES: To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). BACKGROUND: RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities. Non-treated exudative retinopathy leads to blindness. METHODS: We report ophthalmological findings as follows: fundus photography and fluorescein angiography (FA) acquired by examinations under general anesthesia in patient with RS. Results of genetic tests helped to establish the diagnosis. RESULTS: Two­year old Caucasian male was examined due to total retinal detachment on LE and signs of chorioretinal scarring on RE. In preoperative screening, thrombocytopenia was detected; later, severe pancytopenia developed. Considering the hematological findings and clinical appearance, we suspected RS, which was confirmed by genetic tests. We found a pathogenic mutation in gene TINF2 (variant c.865C>T;p.Pro289Ser) in a mosaic state with autosomal dominant mode of inheritance. This mutation has not been described in RS yet. Blind LE was enucleated because of dolorous neovascular glaucoma. FA of RE shows excessive areas of capillary nonperfusion with vascular abnormalities and exudation. After the photocoagulation, the visual acuity (VA) on RE remains 0.9 at the age of 7 years. CONCLUSIONS: RS is an extremely rare condition.  The initial symptomatology could be ophthalmological or hematological. The positive finding of TINF2 gene mutation helped in establishing the correct diagnosis. The ischemic retinopathy was successfully treated by photocoagulation (Fig. 6, Ref. 6). Text in PDF www.elis.sk.

Ophthalmological finding in a patient with lowe syndrome.

The authors present the ophthamological finding in a patient who at the age of 4.5 months was admitted due to a finding of total bilateral congenital cataract. The patient was observed by a neurologist for central hypotonia and mental retardation. Upon a complex examination of the patient, suspicion of Lowe syndrome was stated, which was confirmed by a metabolic examination and also by genetic tests. Upon an examination of the family, a genetic defect (mutation of OCRL1 gene) was confirmed also in the mother of the patient. A mild subcapsular opacification was present in the mother, beneath the posterior capsule. The patient was operated on for bilateral congenital cataract. Upon an examination under general anaesthesia, trabeculodysgenesis was diagnosed. Intraocular pressure remains within the norm. The patient is now aged 8 years, regularly monitored with regard to metabolic compensation, and by a neurologist and ophthalmologist, with satisfactory visual functions. Early diagnosis of the Lowe syndrome was determined on the basis of a complex examination of the patient within the framework of etiological diagnosis of bilateral congenital cataract. Key words: Lowe syndrome, oculo - cerebro - renal syndrome, congenital cataract, glaucoma, nystagmus.

Marshall and stickler syndrome in one family.

The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine, Comenius University in Bratislava at the age of 3 months, with congenital glaucoma in her right eye and bilateral high myopia. The family anamnesis of the patient shows repeated occurrence of stunted growth, myopia, facial dysmorphia and cataract. The child's mother had high myopia, the mother's brother underwent cataract surgery, the child's grandmother and her sisters and the child's great grandmother had high myopia and glaucoma, and probably underwent cataract surgery at a young age. The child's mother and grandmother underwent a genetic examination, with a conclusion of Marshall syndrome. Within the framework of neonatal screening, poor cortical auditory evoked potential, a defect of the interventricular septum and bifid uvula were diagnosed in the child. With regard to the overall finding in the patient and the genetic family history, we suspected Marshall syndrome. A genetic examination determined Stickler syndrome type 1 with the presence of mutation in the COL2A gene (variant c.2710C >T (p.Arg904Cys,rs121912882)). Due to high intraocular pressure with the impossibility of compensation by medication, bilateral trabuculectomy was performed on the patient. At present the patient has intraocular pressure compensated with adjuvant medicamentous therapy. With regard to high myopia and pronounced degenerative changes on the periphery of the retina in the sense of lattice degeneration, preventive cryopexy of the retinal periphery is planned. A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, cataract.

ß-blockers in the treatment of periocular infantile capillary haemangioma.

Infantile capillary haemangioma (IH) is the most common congenital vascular tumor of childhood and infancy. Although the majority of these lesions regress spontaneously, many of children with IH particularly in the periocular or orbital region need treatment. Ocular indications for treatment include obstruction of the visual axis or high degrees of astigmatism causing amblyopia, exposure keratopathy secondary to proptosis or compressive optic neuropathy. Our purpose was to assess the effectiveness and tolerance of beta-blockers (BB), propranolol and metoprolol, in the treatment of these lesions. We performed a retrospective review of 21 infant patients with periocular or/and orbital IH. The mode of treatment for 13 patients was with the non-selective ß blocker propranolol (PR) and 8 patients were treated with the ß1 selective blocker metoprolol (ME). We analysed the changes in IH lesion size, colour and thickness after the treatment with ß-blockers, the onset and the period of their action, recurrence of IH and adverse effects of the treatment. The effectiveness of metoprolol to propranolol was compared as well as their use in combination with systemic steroids. In the first month of the treatment with beta-blockers, significant regression of the IH was observed in all patients. During the following months of treatment the regression was not rapid and after 6 to 12 months the lesions remained stationary. The final result of the treatment of 15 patients (71.4%) was deemed excellent while the treatment of 5 patients (23.8%) was deemed good. A single patient (4.7%) had only fair response to the therapy. During the whole series no serious life-threatening adverse effects were observed. The usage of beta-blockers, both propranolol and metoprolol, in the therapy of orbital and periocular capillary infantile haemangioma seems to be very effective in reduction of the tumor and had only rare, minimum adverse effects. These facts favour beta-blockers as the first line treatment of children with IH.

[Treatment of Keratoconus with Corneal Cross-linking--Results and Complications in 2 Years Follow-up]. / Corneal cross-linking v liecbe keratokónusu--výsledky a komplikácie v dvojrocnom sledovaní.

OBJECTIVE: The objective of the study was to assessment of changes of monitored parameters after CXL. Incidence of complications were assessed in the whole group and in groups of patients divided according to the selected criteria. Evaluated parameters were also relations between them and in time. METHODS: The 86 eyes of patients with progressive keratoconus who underwent CXL according to the Dresden protocol in the years 2007-2009 at the Ophthalmic clinic FN Brno Bohunice were included in this study. RESULTS: There was observed significant increase of BCVA (letters--before CXL 42,30±10,35, 1st year after CXL (1Y) 44,68±10,04, p<0,01, 2nd year after CXL (2Y) 44,44±10,57, p<0,01) and SE (-5,95±3,98D, -5,27±3,84D, p<0,01, -4,94±3,68D, p<0,01), and decrease of maximum curvature of the cornea (MAX--before CXL 50,39±4,17D, 1Y 49,46±4,13D, p<0,01, 2Y 49,42±4,14D, p<0,01). Change of ultrasound CCT, polymegatisms, pleomorfisms and corneal endothelial cell density was not significant. The value of MAX is the most important parameter in estimating the effect of CXL. The highest incidence of corneal opacity after CXL was observed in the eyes of patients with III. stage of keratoconus over 40 years old, carrying hard contact lenses and with biomikroskopic symptom of keratoconus on the cornea. We found that corneal thickness measurement with Orbscan II and the mesurement of IOP with noncontact method is incorrect by patients after CXL. CONCLUSION: Corneal cross-linking of the cornea is safe and effective procedure of stopping the progression of keratoconus in 97% of eyes in the period up to 2 years after CXL.

[Retinopathy of prematurity. Part I]. / Retinopatia prematúrnych detí I. cast

Retinopathy of prematurity (ROP) is a disease that affects immature vasculature in the eyes of premature babies that potentially leads to blindness. Authors describe incidence, risk factors, pathophysiology and international classification of retinopathy of prematurity (ICROP). Key words: retinopathy of prematurity, incidence, pathophysiology, international classification.

[Retinopathy of prematurity - therapy. Part 2]. / Retinopatia prematúrnych detí - terapia II. cast

Retinopathy of prematurity (ROP) is a disease that affects immature vasculature in the eyes of premature babies that potentially leads to blindness. Authors describe revised indications for the treatment of ROP, standard treatment - peripheral retinal ablation by laser photocoagulation and the cryotherapy using off label treatment-intravitreal anti-VEGF injection. Key words: retinopathy of prematurity, indications, laser photocoagulation, cryotherapy, intravitreal anti-VEGF therapy.

[Screening retinopathy of prematurity (ROP)]. / Skríning retinopatie prematúrnych detí (ROP).

Retinopathy of prematurity (ROP) is abnormal blood vessel development in the retina of the eye in a premature infant that potentially leads to blindness. The guidelines present the timing of initial examination and subsequent reexamination intervals for screening and treating ROP. Key words: retinopathy of prematurity, screening, timing of the examination.

[Foveal hypoplasia detection by optical coherence tomography]. / Detekcia foveálnej hypoplázie optickou koherentnou tomografiou.

PURPOSE: To evaluate the contribution of optical coherence tomography (OCT) in the diagnosis of foveal hypoplasia in children. MATERIAL AND METHODS: Children with foveal hypoplasia (FH) were examinated with device RTVue Fourier - domain (FD) - OCT, software - version 6.8 (Optovue Inc., Fremont, USA). A qualitative examination of the macular area was performed with single horizontal scan (1024 A-scans/frame). Macular thickness was measured and evaluated quantitatively with an automatic fast macular area protocol MM5 (Macular Map 5x5 mm). A control group of children was used for comparison. RESULTS: The quality was assessed with OCT image of the macula and quantitatively evaluated macular thickness and configuration in children with foveal hypoplasia. It was subsequently realized the comparison of macular OCT findings in healthy children. The OCT showed a reduction of foveal depression, continuous extension of the inner retinal layers through the area in which should be normally found fovea. Patients with foveal hypoplasia had thicker central macula and fovea than children in the control group. CONCLUSION: OCT in our group of patients confirmed the final diagnosis of foveal hypoplasia. FD-OCT is a noninvasive and quick method helpful in identifying retinal abnormalities in the diagnosis of foveal hypoplasia in children and may be useful in diagnosing patients with unexplained decrease in vision.

[The effectiveness of corneal cross-linking in stopping the progression of keratoconus]. / Efektivita corneal cross-linkingu v zastavení progresie keratokónusu.

OBJECTIVE: Objective of the study was to prove the efficiency of corneal cross-linking (CXL) in stopping the progression of keratoconus. METHODS: In this study were included 58 eyes of patients with progressive keratoconus who underwent CXL according to the Dresden protocol in the years 2007-2009 at the Ophthalmic clinic FN Brno Bohunice. The eyes of patients were divided into four groups according to the change of maximum curvature of the cornea two years after CXL. RESULTS: Stabilization of maximum curvature of the cornea have been reported in 40 % of eyes, regression in 57 % of eyes by an average of 1,92D and disease progression in 3 % of eyes 2 years after CXL. The eyes with regression over 2D had significantly higher best-corrected visual acuity before and after the procedure compared to the group with stabilization. Spherical equivalent increased significantly in all groups, on average, in the group with stabilization of 0,54D, in the group with mild regression of 0,71D and in the group with a large regression of 2,09D. In the group with a large regression 100 % of eyes had stabilization or increase in SE. Our observations showed that, when a decrease in the patient keratometric values of cornea is present after CXL, it is comprehensive and applies to all parameters. CONCLUSION: We have confirmed that corneal cross-linking stops the progression of the disease in 97 % of eyes two years after the procedure.

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations in patients with NF1 may help to determine the risk group for developing complications such as OPG in coincidence with other NF1.features. We evaluated 52 patients with NF1 (25 with OPG and 27 without OPG). All subjects underwent a clinical examination focused on neurofibromatosis type 1 and molecular diagnostics of NF1 gene using protocol based on RNA analysis confirming the diagnosis of NF1. In the group with OPG patients, there was a significantly higher incidence of freckling (P=0.017), neurofibromatosis bright objects (NBO) (P=0.0038), compared to the group without OPG. The differences between the groups with respect to Lisch nodules were on the borderline of statistical significance (P=0.088). The frequency of neurofibromas in the group with OPG was not significant (P=0.9). From all patients with the mutation localized in the first tertile of the NF1 gene majority (71%) had optic glioma compared to individuals who didn't have the OPG 29% (P=0.0049). Our results present the clustering of mutations in the 5'tertile of NF1 gene in patients with optic nerve glioma and suggest higher incidence of freckling and neurofibromatosis brain objects in these patients. Molecular analysis of NF1 gene is important part in complex management of NF1 patients and contributes to a better understanding of clinical picture of NF1 patients. .

[Vogt-Koyanagi-Harada syndrome in children - a case report]. / Vogt-Koyanagi-Harada syndróm v detskom veku.

Vogt-Koyanagi-Harada (VKH) syndrome is a multisystemic disease characterized by granulomatous panuveitis with exsudative retinal detachment and often associated with neurological and skin symptomatology. In the paper is presented a rare case of probably VHK syndrome in 11-year old caucasian race boy in which was found the bilateral granulomatous panuveitis with exsudative retinal detachment without other systemic symptomatology with typical clinical characteristics and course. Systemic corticosteroid therapy in a patient gradually improved the state, which was then complicated by the occurrence of juxtapapillary subretinal neovascular membrane on both eyes. The following administration of intravitreal injection anti-VEGF (bevacizumab) was modified visual acuity and reduced neovascular membrane. Key words: Vogt-Koyanagi-Harada syndrome, children, juxtapapillary choroidal neovascular membrane, anti-VEGF, bevacizumab.

[Adenoma of the ciliary body in 3-year-old boy - a case report]. / Adenóm ciliárneho telesa u trojrocného chlapca.

In this paper has been reported a rare case of the ciliary body tumor in 3-year-old boy, which was diagnosed as adenoma of the nonpigmented ciliary body epithelium. The diagnosis was confirmed histologically and immunohistochemically.

[The relations of morphological and functional changes in children with retinal dystrophy disease]. / Vztah morfologických a funkcných zmien u detí s dystrofickým ochorením sietnice.

PURPOSE: To characterize the correlation between functional and morphological changes in the retina in the retinal dystrophies in children. METHODS: In the group of six patients with selected types of retinal dystrophies was analysed the morphological findings obtained by the Optical coherence tomography (OCT) and their correlation with the electrophysiological findings. RESULTS: Typical morphological retinal changes visualised by OCT were confirmed in all examined patients and were in correlation with progressive loss of visual function (decrease of visual acuity, constriction of visual field or scotomas in visual field, colour vision defect, nyctalopia) and abnormal values of the electrophysiological findings. CONCLUSION: Optical coherence tomography and electrophysiological methods are essential in approaching patient with tapetoretinal dystrophies. Correlation of these findings enables us to make diagnose easier, to understand better the dynamic of the morfological and functional changes in these patients. It can also be implicated as prognostic indicators for visual progression in patients with retinal dystrophy and also in prevention by means of genetic methods.

[Aplasia of the optic nerve]. / Aplázia zrakového nervu.

Optic nerve aplasia is a very rare ocular congenital defect and is invariably associated with other ocular or systemic disorders. The authors demonstrate a case report in the 2.5 month old girl with unilateral mikroftalmia, aniridia and aplasia of the optic nerve.

[Orbital ontogen dermoid cyst]. / Odontogénna dermoidná cysta orbity.

In the paper is described the very rare orbital dermoid cyst in lacrimal sac region containing ectopic dental elements. There was an uneventful clinical picture after the first operation, but a recurrence of the cyst with the presence of teeth in lacrimal region of the down eyelid has occurred four years after the first operation. After exstirpation of entire cyst contents has been achieved the favourable cosmetic and functional result.

[Suggested low vision care for visually impaired children in Slovakia]. / Návrh systému starostlivosti o zrakovo postihnuté deti v SR.

INTRODUCTION: There is currently no system of registration for visually impaired children in Slovakia and the current prevalence of visual impairment (VI), low vision and blindness is unknown for this population. We propose a template for a process of registration of visually impaired children in Slovakia as well as a system for the Low Vision Health Core for this population. MATERIAL AND METHODS: Based on a literature search, we report our data of the estimated prevalence of VI in children in Slovakia and the number of registered students with VI. We have created a registration form and suggested a template of registration for VI children as well as the Health Care System for this population. RESULTS: In industrialized countries, the prevalence of VI, including blindness is 10 -22/10,000 in children aged less than 16 years. Extrapolating these figures to the Slovak population, we estimate that there will be between 1500 to 3200 VI children under the age of 19 years. Only 752 students with VI of this age were recorded in Slovakia in 2009/2010. We suggest that three Low Vision Centres for VI children should be adequate to cater for the VI population, each of which should provide all levels of care and that ophthalmologists should register patients with VI by filling the proposed registration form. CONCLUSION: The number of VI children in Slovakia appears to be very low. The only way of accurately assessing the prevalence is to introduce a VI registration system into the country, to be carried out by the ophthalmologists. We suggest that the Low vision service provided by the health authority needs to be divided into primary, secondary and tertiary care (including visual rehabilitation by low vision aids). Only if the Health Insurance will adequately remunerate the Ophthalmologists for the individual procedures will they be motivated enough to provide this level of health care to VI patients.