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.

Recommendations for the Management of Uveitis Associated With Juvenile Idiopathic Arthritis: The Czech and Slovak adaptation of SHARE Initiative.

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and uveitis is its most important extra-articular manifestation. Evidence-based recommendations are available only to a limited extent and therefore JIA associated uveitis management is mostly based on physicians experience. Consequently, treatment practices differ widely, both nationally and internationally. Therefore, an effort to optimize and publish recommendations for the care of children and young adults with rheumatic diseases was launched in 2012 as part of the international project SHARE (Single Hub and Access Point for Pediatric Rheumatology in Europe) to facilitate clinical practice for paediatricians and (paediatric) rheumatologists. The aim of this work was to translate published international SHARE recommendations for the diagnosis and treatment of JIA associated uveitis and to adapt them for use in the Czech and Slovak Republics. International recommendations were developed according to the standard methodology of the European League against Rheumatism (EULAR) by a group of nine experienced paediatric rheumatologists and three experts in ophthalmology. It was based on a systematic literature review and evaluated in the form of an online survey and subsequently discussed using a nominal group technique. Recommendations were accepted if > 80% agreement was reached (including all three ophthalmologists). A total of 22 SHARE recommendations were accepted: 3 on diagnosis, 5 on disease activity assessment, 12 on treatment and 2 on future recommendations. Translation of the original text was updated and modified with data specific to the czech and slovak health care systems and supplemented with a proposal for a protocol of ophthalmological dispensarization of paediatric JIA patients and a treatment algorithm for JIA associated uveitis. Conclusion: The aim of the SHARE initiative is to improve and standardize care for paediatric patients with rheumatic diseases across Europe. Therefore, recommendations for the diagnosis and treatment of JIA-associated uveitis have been formulated based on the evidence and agreement of leading European experts in this field.

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.

[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.

[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.

The problems of pediatric glaucoma.

The authors in the work define and introduce classification of the pediatric glaucomas and analyze the new opinions on the clinical and genetic aspects of this affection and their significance for ophthalmologic practice. Also they have dealt with recommended process in diagnostics. They analyse modern therapeutical problems of glaucoma in children. Authors have followed long-term the collection about 300 different pediatric glaucomas. Its purpose is by securing of reduction of intraocular pressure to preserve the satisfactory visual acuity and the visual field, eventually to reduce the progress of optic nerve damage. They introduce the brief survey about the newest pharmacological therapy in the conservative treatment of pediatric glaucoma and also they recommend the algorithm of surgical treatment, which is valid at this time and applied in their own praxis.