INTRODUCTION: The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome, and Holt-Oram syndrome. We report a family with vertical transmission of a SALL4 pathogenic variant leading to radial hypoplasia and kidney dystopia in several generations with additional growth hormone deficiency (GHD) in the proband. CASE PRESENTATION: Our male proband was born at the 39th week of gestation. He was born small for gestational age (SGA; birth weight 2,550 g, -2.2 SDS; length 47 cm, -2.0 SDS). He had bilateral asymmetrical radial ray malformation (consisting of radial hypoplasia, ulnar flexure, and bilateral aplasia of the thumb) and pelvic kidney dystopia, but no cardiac malformations, clubfoot, ocular coloboma, or Duane anomaly. He was examined for progressive short stature at the age of 3.9 years, where his IGF-1 was 68 μg/L (-1.0 SD), and growth hormone (GH) after stimulation 6.2 μg/L. Other pituitary hormones were normal. A brain CT revealed normal morphology of the cerebral midline and the pituitary. He had a dental anomaly - a central mandibular ectopic canine. MRI could not be done due to the presence of metal after multiple corrective plastic surgeries of his hands. His mother's and father's heights are 152.3 cm (-2.4 SD) and 177.8 cm (-0.4 SD), respectively. His father has a milder malformation of the forearm. The affected paternal grandfather (height 164 cm; -2.3 SD) has a radial ray defect with missing opposition of the thumb. The family reports a similar phenotype of radial dysplasia in the paternal grandfather's mother. The proband started GH therapy at age 6.5 years when his height was 109 cm (-2.8 SDS) and he experienced catch-up growth as expected in GHD. Puberty started spontaneously at the age of 12.5 years. At age 13, his height was 158.7 cm (-0.2 SDS). Whole-exome sequencing revealed a nonsense variant in the SALL4 gene c.1717C>T (p.Arg573Ter) in the proband, his father, and paternal grandfather. CONCLUSION: This is the first observation of a patient with a congenital upper limb defect due to a pathogenic SALL4 variant who has isolated GHD with no apparent cerebral or facial midline anomaly and has been successfully treated with growth hormone.

• Klíčová slova
• Growth hormone deficiency, Growth hormone therapy, Radial ray malformation, SALL4 gene,
• MeSH
• dospělí MeSH
• Duaneův retrakční syndrom * genetika   patologie   MeSH
• fenotyp MeSH
• horní končetina patologie   MeSH
• hypopituitarismus * genetika   MeSH
• ledviny patologie   MeSH
• lidé MeSH
• lidský růstový hormon * MeSH
• předškolní dítě MeSH
• transkripční faktory genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• kazuistiky MeSH
• Názvy látek
• lidský růstový hormon * MeSH
• SALL4 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

AIM: This retrospective clinical study evaluates the results of surgical treatment of patients diagnosed with intermittent exotropia of the divergence excess type. The study compares the results of surgery delayed due to the Covid-19 pandemic (patients underwent the surgery after the age of eight), versus a group of younger children. MATERIALS AND METHODS: The objective angle of deviation and quality of binocular functions were examined. The follow-up period was six months after surgery. The patients were divided into two groups according to age: 4-7 years and 8-13 years. Each group included 20 patients. The second group comprised patients whose surgery was postponed due to restrictions on elective surgery during the ongoing pandemic. The surgery took place at the University Hospital in Pilsen. Angle of deviation and binocular functions were examined before surgery, postoperatively, and three and six months after surgery. Data were collected retrospectively and statistically processed. The main values were plotted in charts. RESULTS: Accordance between the angle of deviation before surgery in both groups was statistically demonstrated. During the six-month follow-up period, the median angle of deviation was statistically without proof of disparity between the groups. Six months after surgery, an objective angle of deviation within the limit ±5 degrees was achieved in 65% of patients from the first group and in 75% from the second group. Binocular vision before surgery was statistically without proof of difference between both groups. However the statistical processing demonstrated a difference between the two groups six months after the surgery. Better binocular functions were achieved by the younger children in the first group. CONCLUSION: The objective deviation angle was comparable in both study groups prior to surgery as well as six months after the surgery. The first group of younger patients attained a higher quality of binocular functions within the six-month follow-up period compared to children operated on after the age of eight. This claim was statistically verified.

• Klíčová slova
• Binocular vision, COVID-19, divergence excess, intermittent exotropia, lateral rectus recession, medial rectus resection,
• MeSH
• COVID-19 MeSH
• dítě MeSH
• exotropie * chirurgie   patofyziologie   MeSH
• lidé MeSH
• mladiství MeSH
• oftalmologické chirurgické výkony * škodlivé účinky   MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• vidění binokulární MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Oculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical ataxia scales and as outcome measures for interventional trials. Quantitative assessment of oculomotor function has become increasingly available and thus applicable in multicenter trials and offers the opportunity to capture severity and progression of oculomotor impairment in a sensitive and reliable manner. In this consensus paper of the Ataxia Global Initiative Working Group On Digital Oculomotor Biomarkers, based on a systematic literature review, we propose harmonized methodology and measurement parameters for the quantitative assessment of oculomotor function in natural-history studies and clinical trials in hereditary ataxia. MEDLINE was searched for articles reporting on oculomotor/vestibular properties in ataxia patients and a study-tailored quality-assessment was performed. One-hundred-and-seventeen articles reporting on subjects with genetically confirmed (n=1134) or suspected hereditary ataxia (n=198), and degenerative ataxias with sporadic presentation (n=480) were included and subject to data extraction. Based on robust discrimination from controls, correlation with disease-severity, sensitivity to change, and feasibility in international multicenter settings as prerequisite for clinical trials, we prioritize a core-set of five eye-movement types: (i) pursuit eye movements, (ii) saccadic eye movements, (iii) fixation, (iv) eccentric gaze holding, and (v) rotational vestibulo-ocular reflex. We provide detailed guidelines for their acquisition, and recommendations on the quantitative parameters to extract. Limitations include low study quality, heterogeneity in patient populations, and lack of longitudinal studies. Standardization of quantitative oculomotor assessments will facilitate their implementation, interpretation, and validation in clinical trials, and ultimately advance our understanding of the evolution of oculomotor network dysfunction in hereditary ataxias.

• Klíčová slova
• Eye movement recordings, Hereditary ataxia, Oculomotor, Recommendations, Systematic review, Vestibular,
• MeSH
• biologické markery MeSH
• konsensus * MeSH
• lidé MeSH
• pohyby očí fyziologie   MeSH
• poruchy hybnosti oka diagnóza   patofyziologie   genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• systematický přehled MeSH

AIMS: To demonstrate changes in distance and near fusional vergence measured with prism bars, while compensating for present heterophoria using current ametropia correction. In addition, to determine the differences in values of the AC/A ratio determined by the heterophoric (calculation) and gradient methods. MATERIAL AND METHODS: The basic sample includes 19 subjects with a mean age of 21.5 ±3.0 years (min. 18, max. 27). We used the Von Graefe technique for examination of distance and near phoria, and prism bars for examination of fusion vergences measured in prism diopters. We divided the basic cohort into six research sets according to the size of distance and near heterophoria. This was a cohort of patients with distance (D OR) and near orthophoria (N OR), a cohort of patients with distance (D EX) and near exophoria (N EX) and a set of patients with distance (D ES) and near esophoria (N ES). RESULTS: In the case of both groups with exophoria (distance, near) we found a statistically significant result only for negative fusion vergence (NFV). There was a statistically significant increase in NFV in the sample with distance and near exophoria (D EX, p = 0.01 and B EX, p = 0.02, respectively). In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method. CONCLUSION: By comparing fusion vergence values in patients with exophoria and orthophoria, we demonstrated that in the presence of distance or near exophoria there is an increase in ipsilateral fusion vergence. In the case of an increase in ipsilateral fusion vergence, the finding was statistically significant both distance and near (p = 0.01 and p = 0.02, respectively). By contrast, we were unable to prove this fact in the group of patients with esophoria. In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method.

• MeSH
• dospělí MeSH
• esotropie * diagnóza   MeSH
• exotropie * diagnóza   MeSH
• keratokonus * diagnóza   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• oční konvergence MeSH
• optická koherentní tomografie MeSH
• strabismus * MeSH
• vidění binokulární MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• Publikační typ
• časopisecké články MeSH

AIMS: To demonstrate changes in distance and near fusional vergence measured with prism bars, while compensating for present heterophoria using current ametropia correction. In addition, to determine the differences in values of the AC/A ratio determined by the heterophoric (calculation) and gradient methods. MATERIAL AND METHODS: The basic sample includes 19 subjects with a mean age of 21.5 ±3.0 years (min. 18, max. 27). We used the Von Graefe technique for examination of distance and near phoria, and prism bars for examination of fusion vergences measured in prism diopters. We divided the basic cohort into six research sets according to the size of distance and near heterophoria. This was a cohort of patients with distance (D OR) and near orthophoria (N OR), a cohort of patients with distance (D EX) and near exophoria (N EX) and a set of patients with distance (D ES) and near esophoria (N ES). RESULTS: In the case of both groups with exophoria (distance, near) we found a statistically significant result only for negative fusion vergence (NFV). There was a statistically significant increase in NFV in the sample with distance and near exophoria (D EX, p = 0.01 and B EX, p = 0.02, respectively). In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method. CONCLUSION: By comparing fusion vergence values in patients with exophoria and orthophoria, we demonstrated that in the presence of distance or near exophoria there is an increase in ipsilateral fusion vergence. In the case of an increase in ipsilateral fusion vergence, the finding was statistically significant both distance and near (p = 0.01 and p = 0.02, respectively). By contrast, we were unable to prove this fact in the group of patients with esophoria. In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method.

• MeSH
• dospělí MeSH
• esotropie * diagnóza   MeSH
• exotropie * diagnóza   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• oční konvergence MeSH
• strabismus * MeSH
• vidění binokulární MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE: To evaluate the state of binocular vision, the amount and direction of the ocular deviation before and after strabismus surgery in adult patients and to monitor the occurrence of postoperative complications. METHODS: The retrospective study of 58 adult patients with selected types of strabismus who were surgically treated in the Eye Department of the Tomas Bata Regional Hospital in Zlín. We evaluated the amount and the degree of the primary ocular deviation and the binocular alignment before and after surgery, as well as the state of binocular vision after surgery and the occurrence of postoperative complications. RESULTS: The average deviation in convergent strabismus before surgery was +23.46 degrees, after surgery +6.6 degrees, in divergent strabismus it was -21.5 degrees, after surgery -1.48 degrees, for vertical strabismus before surgery +12.5 degrees and +3.75 degrees after surgery and in paralytic strabismus +20 degrees before surgery and +3 degrees postoperatively. Preoperatively there was effectively no binocular vision in up to 63.9% of patients, superposition occurred in 31%, fusion in 5.1%. No patient had stereopsis before surgery. After surgery, superposition was present in 39.7%, fusion in 31% and stereopsis in 6.9% of patients. Only 22.4% of patients experienced no binocular vision after surgery. Of the selected 21 patients out of 58 with an observation period of at least 3 years, we observed an improvement or development of binocular vision functions after surgery in 12 patients and no improvement of binocular vision functions in 9 patients. In the first group, 58.3% had a stable deviation throughout the follow-up period. While in the second group the deviation was stable in only 33.3%. We can assume that the improvement in binocular vision function after strabismus surgery, leads to a greater longer-term stability of postoperative deviations. CONCLUSION: Strabismus surgery in adult patients is an effective and safe method, which is not only a cosmetic procedure used to adjust the position of the eyes, but also enables us to induce or improve the state of binocular vision functions.

• Klíčová slova
• JBV, binocular function, deviation, simple binocular vision, strabismus,
• MeSH
• dospělí MeSH
• lidé MeSH
• oftalmologické chirurgické výkony metody   MeSH
• okulomotorické svaly chirurgie   MeSH
• pooperační komplikace chirurgie   MeSH
• retrospektivní studie MeSH
• strabismus * chirurgie   MeSH
• vidění binokulární MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Intraocular pressure (IOP) measurement in patients with thyroid-associated orbitopathy (TAO) can be difficult and misleading, particularly in patients with diplopia and eye deviation (esotropia or hypotropia). However, when measuring IOP, it is also necessary to pay sufficient attention to TAO patients without diplopia in primary gaze direction and without motility disorder that might not be readily apparent. PURPOSE: The aim of this study was to evaluate the accuracy of measurement of intraocular pressure (IOP) using three different types of tonometers: the rebound tonometer (iCARE), the Goldmann applanation tonometer (GAT) and the non-contact airpuff tonometer (NCT) in patients with inactive TAO. Materials and Methods: A total of 98 eyes of 49 adult patients with TAO were examined. The study group included 36 females and 13 males, with an age range of 19-70 years and a median age of 55.0. All the patients had evidence of thyroid disease, a history of mild to moderate TAO, no clinical signs or symptoms of active disease, and no diplopia in direct gaze direction. In addition to a comprehensive eye examination, all the patients underwent measurement of intraocular pressure with three tonometers: NCT, iCARE, and GAT. The measurements with these three devices were compared. RESULTS: The mean IOP was 18.1 ± 2.4 mmHg (range 13-25 mmHg) with GAT, 22.3 ±5.0 mmHg (range 13-35 mmHg) with NCT, and 18.0 ±2.4 mmHg (range 13.3-26 mmHg) with iCARE. The mean difference between the GAT and iCARE measurements (using the Bland-Altman analysis) was -0.1 ±1.16 mmHg (limits of agreement -2.4 to 2.1). The mean difference between the GAT and NCT measurements was 4.2 ±3.6 mmHg (limits of agreement -2.8 to 11.2). The mean difference between the iCARE and NCT measurements was -4.3 ±3.7 mmHg (limits of agreement -11.6 to 2.9). No significant difference was found between GAT and iCARE (p = 1.000). However, there was a significant difference between GAT and NCT (p < 0.0001), as well as between iCARE and NCT (p < 0.0001). Conclusions: In patients with TAO, NCT significantly overestimates IOP values compared to the GAT and ICare. By contrast, the iCARE rebound tonometer provides IOP measurements comparable to the gold standard GAT in these patients.

• Klíčová slova
• Goldmann applanation tonometry, endocrine orbitopathy, iCARE rebound tonometer, intraocular pressure, non-contact tonometry, thyroid-associated orbitopathy,
• MeSH
• diplopie MeSH
• dospělí MeSH
• Gravesova oftalmopatie * komplikace   diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nitrooční tlak MeSH
• reprodukovatelnost výsledků MeSH
• senioři MeSH
• strabismus * MeSH
• tonometrie oční metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Corticobasal syndrome (CBS) is a specific clinical manifestation shared by multiple pathologies. The exact mechanism of this phenomenon remains unclear. Differential diagnosis of CBS in everyday clinical practice is challenging, as this syndrome can overlap with other entities, especially progressive supranuclear palsy Richardson-Steele phenotype (PSP-RS). Several papers have suggested a possible role of vascular pathology as a linking factor in the pathogenesis of CBS based on different neuropathologies. This paper analyses differences in the occurrence of the most common vascular risk factors such as hypertension and lipid profile with respect to dietary habits among patients who fulfill the diagnostic criteria for probable/possible CBS and PSP-RS. MATERIAL AND METHODS: Seventy (70) patients in total were included in the study. Exclusion criteria comprised hydrocephalus, stroke in the past, the presence of marked vascular changes in white matter defined as the presence of vascular change ≥ 1 mm in 3T MRI, medical history of hyperlipidemia or the use of drugs that could impact upon lipid metabolism before the initiation of the neurodegenerative disease, and neoplastic focuses in the central nervous system. Patients with diabetes, or with BMI exceeding 18-25, or who were smokers, or who were affected by chronic stress were also excluded. Data was analysed statistically using the Shapiro-Wilk test, the U Mann-Whitney test for group comparison, and a Bonferroni correction to control the false discovery rate (FDR). RESULTS: Our obtained results indicated a statistically significantly higher level of total cholesterol in the CBS group (p = 0.0039) without a correlation with dietary habits. CONCLUSIONS AND CLINICAL IMPLICATIONS: The results obtained in our study may suggest a possible role of vascular pathology in CBS development. This issue requires further research.

• Klíčová slova
• CBS phenotype, corticobasal syndrome, hyperlipidemia, neurodegeneration, risk factor,
• MeSH
• hyperlipidemie * MeSH
• kortikobazální degenerace * MeSH
• lidé MeSH
• neurodegenerativní nemoci * etiologie   diagnóza   patologie   MeSH
• pilotní projekty MeSH
• progresivní supranukleární obrna * diagnóza   patologie   MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Vertigo/dizziness or balance disorders are among the most common patients complaints in emergency clinics. Up to 25% of them are potentially life-threatening, especially cardiovascular or cerebrovascular events. The combination of a careful history taking (triggers, duration of difficulties, associated symptoms) and the performance of a basic vestibular examination (nystagmus, oculomotor, head impulse test, positional maneuvers, standing and walking examination) leads to a reliable differentiation of central and peripheral vestibular etiology. Standardized diagnostic algorithms (HINTS, HINTS+, STANDING) are used to identify high-risk patients requiring urgent care. Imaging methods must be interpreted with caution to their low sensitivity in acute phase (sensitivity of non-contrast brain CT for ischemia in the posterior cranial fossa is only 16%, MRI of the brain is false negative in up to 20% of cases in stroke patients in the first 48 hours).

• Klíčová slova
• Neuroimaging, Vertigo, head impulse test, imaging, nystagmus, stroke, vertigo, vestibular system,
• MeSH
• cévní mozková příhoda * MeSH
• lidé MeSH
• magnetická rezonanční tomografie škodlivé účinky   metody   MeSH
• patologický nystagmus * komplikace   diagnóza   MeSH
• vertigo diagnostické zobrazování   etiologie   MeSH
• závrať etiologie   komplikace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: To evaluate the safety and efficacy of AM-125 nasal spray (intranasal betahistine) in the treatment of surgery-induced acute vestibular syndrome (AVS). STUDY DESIGN: Prospective, double-blind, randomized, placebo-controlled exploratory phase 2 study with dose escalation (part A) followed by parallel dose testing (part B); open-label oral treatment for reference. SETTING: Twelve European study sites (tertiary referral centers). PATIENTS: One hundred and twenty-four patients 18 to 70 years old undergoing surgery for vestibular schwannoma resection, labyrinthectomy or vestibular neurectomy with confirmed bilateral vestibular function presurgery and acute peripheral vertigo postsurgery. INTERVENTIONS: AM-125 (1, 10, or 20 mg) or placebo or betahistine 16 mg p.o. t.i.d. for 4 weeks, starting 3 days postsurgery; standardized vestibular rehabilitation. MAIN OUTCOME MEASURES: Tandem Romberg test (TRT) for primary efficacy, standing on foam, tandem gait, subjective visual vertical and spontaneous nystagmus for secondary efficacy, Vestibular Rehabilitation Benefit Questionnaire (VRBQ) for exploratory efficacy; nasal symptoms and adverse events for safety. RESULTS: At treatment period end, mean TRT improvement was 10.9 seconds for the 20-mg group versus 7.4 seconds for the placebo group (mixed model repeated measures, 90% confidence interval = 0.2 to 6.7 s; p = 0.08). This was corroborated by nominally higher frequency of complete spontaneous nystagmus resolution (34.5% vs. 20.0% of patients) and improvement in the VRBQ; the other secondary endpoints showed no treatment effect. The study drug was well tolerated and safe. CONCLUSIONS: Intranasal betahistine may help accelerate vestibular compensation and alleviate signs and symptoms of vestibular dysfunction in surgery-induced AVS. Further evaluation in a confirmatory manner appears warranted.

• MeSH
• betahistin * škodlivé účinky   MeSH
• dospělí MeSH
• dvojitá slepá metoda MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• patologický nystagmus * MeSH
• prospektivní studie MeSH
• senioři MeSH
• vertigo farmakoterapie   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky, fáze II MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH
• Názvy látek
• betahistin * MeSH