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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: Two‑year 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.

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).

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.