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1.
Cesk Slov Oftalmol ; 80(2): 86-92, 2024.
Article in English | MEDLINE | ID: mdl-38413225

ABSTRACT

AIM: To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the pediatric population in Slovakia. MATERIAL AND METHODS: Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children ­ 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods ­ fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients' age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease ­ optic nerve gliomas or microvascular changes (so-called "corkscrew" vessels). RESULTS: Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age. CONCLUSION: The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation


Subject(s)
Neurofibromatosis 1 , Optic Nerve Glioma , Male , Female , Humans , Child , Child, Preschool , Adolescent , Neurofibromatosis 1/complications , Choroid/pathology , Ophthalmoscopy/methods , Multimodal Imaging
2.
Medicina (Kaunas) ; 57(4)2021 Mar 30.
Article in English | MEDLINE | ID: mdl-33808187

ABSTRACT

Background and Objectives: To evaluate the performance of intraocular lenses (IOLs) using power calculation formulas on different types of IOL. Materials and Methods: 120 eyes and four IOL types (BioLine Yellow Accurate Aspheric IOL (i-Medical), TECNIS ZCB00, TECNIS ZA9003 (Johnson & Johnson) (3-piece IOL) and Softec HD (Lenstec)) were analyzed. The performance of Haigis, Barret Universal II and SKR-II formulas were compared between IOL types. The mean prediction error (ME) and mean absolute prediction error (MAE) were analyzed. Results: The overall percentage of eyes predicted within ±0.25 diopters (D) was 40.8% for Barret; 39.2% Haigis and 31.7% for SRK-II. Barret and Haigis had a significantly lower MAE than SRK-II (p < 0.05). The results differed among IOL types. The largest portion of eyes predicted within ±0.25 D was with the Barret formula in ZCB00 (33.3%) and ZA9003 (43.3%). Haigis was the most accurate in Softec HD (50%) and SRK-II in Biolline Yellow IOL (50%). ZCB00 showed a clinically significant hypermetropic ME compared to other IOLs. Conclusions: In general, Barret formulas had the best performance as a universal formula. However, the formula should be chosen according to the type of IOL in order to obtain the best results. Constant optimizations are necessary for the Tecnis IOL ZCB00 and ZA9003, as all of the analyzed formulas achieved a clinically significant poor performance in this type of IOL. ZCB00 also showed a hypermetropic shift in ME in all the formulas.


Subject(s)
Lenses, Intraocular , Phacoemulsification , Humans , Lens Implantation, Intraocular , Refraction, Ocular , Retrospective Studies
3.
Medicina (Kaunas) ; 57(2)2021 Jan 29.
Article in English | MEDLINE | ID: mdl-33572746

ABSTRACT

Nanophthalmic uveal effusion syndrome (UES) is an extremely rare idiopathic disease characterized by a short axial length of the eye, extremely thick sclera and choroid. These structural changes can lead to spontaneous serous detachment of the retina and peripheral choroid. There are many other causes of UES such as trauma, inflammation, cataract surgery, glaucoma, or retinal detachment. UES is classified into three types. All are characterized by a relapsing-remitting clinical course. The loss of visual acuity ranges from mild to very severe, depending on macular involvement. Changes of the retinal pigment epithelium develop secondary after long-standing choroidal effusion and retinal detachment. Subretinal exudates could be seen and mistakenly diagnosed as chorioretinitis. UES can be very difficult to treat. The most commonly used treatment is surgery involving the creation of surgical sclerostomies (scleral window surgery) or partial thickness sclerectomies to support transscleral drainage. In our case, we present a bilateral nanophthalmic UES, which was misdiagnosed as bilateral ocular Vogt-Koyanagi-Harada disease. We documented the course of the disease and the results of the different surgical approaches in both eyes. A pars plana vitrectomy was performed in the right eye and a sclerectomy with sclerostomies in the left eye. In the left eye, even long lasting loss of visual acuity due to a serous retinal detachment was partially reversed.


Subject(s)
Uveal Effusion Syndrome , Exudates and Transudates , Humans , Neoplasm Recurrence, Local , Sclera , Vitrectomy
4.
Medicina (Kaunas) ; 56(11)2020 Nov 09.
Article in English | MEDLINE | ID: mdl-33182356

ABSTRACT

Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the midbrain, in the eyes, orbit, and rarely in cutaneous nevi. Neurological and ocular symptoms are the most common. Ocular signs and symptoms include abnormally dilatated vessels of conjunctiva, nystagmus, strabismus, vitreous hemorrhage, vein occlusions, retinal detachment, etc. Neurological symptoms may include headaches, paralysis, epistaxis, hydrocephalus, and hemiparesis. Imaging modalities such as MRI/CT angiography, optical coherence angiography, and fluorescein angiography are the most important for the identification of arteriovenous malformations. In our case report, we present an eight-month-old girl with an incidental finding of retinal angiomatosis on the left eye and was subsequently diagnosed with Wyburn-Mason syndrome. We compare the findings from the first visit to her clinical findings 20 years later.


Subject(s)
Arteriovenous Fistula , Intracranial Arteriovenous Malformations , Neurocutaneous Syndromes , Retinal Artery , Adult , Arteriovenous Fistula/diagnostic imaging , Female , Fluorescein Angiography , Humans , Infant , Intracranial Arteriovenous Malformations/diagnostic imaging , Neurocutaneous Syndromes/diagnostic imaging , Retinal Artery/diagnostic imaging
5.
Int J Mol Sci ; 21(2)2020 Jan 15.
Article in English | MEDLINE | ID: mdl-31952342

ABSTRACT

Protein glycation is usually referred to as an array of non-enzymatic post-translational modifications formed by reducing sugars and carbonyl products of their degradation. The resulting advanced glycation end products (AGEs) represent a heterogeneous group of covalent adducts, known for their pro-inflammatory effects in mammals, and impacting on pathogenesis of metabolic diseases and ageing. In plants, AGEs are the markers of tissue ageing and response to environmental stressors, the most prominent of which is drought. Although water deficit enhances protein glycation in leaves, its effect on seed glycation profiles is still unknown. Moreover, the effect of drought on biological activities of seed protein in mammalian systems is still unstudied with respect to glycation. Therefore, here we address the effects of a short-term drought on the patterns of seed protein-bound AGEs and accompanying alterations in pro-inflammatory properties of seed protein in the context of seed metabolome dynamics. A short-term drought, simulated as polyethylene glycol-induced osmotic stress and applied at the stage of seed filling, resulted in the dramatic suppression of primary seed metabolism, although the secondary metabolome was minimally affected. This was accompanied with significant suppression of NF-kB activation in human SH-SY5Y neuroblastoma cells after a treatment with protein hydrolyzates, isolated from the mature seeds of drought-treated plants. This effect could not be attributed to formation of known AGEs. Most likely, the prospective anti-inflammatory effect of short-term drought is related to antioxidant effect of unknown secondary metabolite protein adducts, or down-regulation of unknown plant-specific AGEs due to suppression of energy metabolism during seed filling.


Subject(s)
Droughts , Metabolomics/methods , Pisum sativum/metabolism , Plant Proteins/metabolism , Protein Processing, Post-Translational , Seeds/metabolism , Antioxidants/metabolism , Cell Line, Tumor , Energy Metabolism , Gas Chromatography-Mass Spectrometry , Glycation End Products, Advanced/metabolism , Glycosylation , Humans , NF-kappa B/metabolism , Stress, Physiological
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