• Although ocular manifestations may precede the cutaneous signs by years, in many cases they develop concurrently with dermatologic manifestations. (medscape.com)
  • However, the prevalence of other ocular and systemic manifestations of this condition is poorly understood. (molvis.org)
  • Ocular manifestations of the NAA10 -related syndrome are not uncommon, although they have not been well characterized in literature reports. (hindawi.com)
  • Ocular manifestations identified in this child include downslanting palpebral fissures, myopic astigmatism, nystagmus, and exotropia. (hindawi.com)
  • Ocular manifestations of the NAA10 -related syndrome have not been well characterized in the literature. (hindawi.com)
  • We found that by comparing frameshift and point mutation cases in 27 Chinese patients with TCIRG1-IMO, severity of the ocular manifestations was related to the type of gene mutation, and the frameshift mutation in TCIRG1 led to more serious phenotypes. (bmj.com)
  • Better control of the systemic comorbidities with bone marrow hematopoietic stem cell transplant (HSCT) and enzymatic replacement therapy (ERT) and the increase in life expectancy allowed the identification of new, late-onset ocular manifestations in MPS patients. (eyewiki.org)
  • This is the first gene that has been definitively shown to directly cause a clinical phenotype when deleted. (wikipedia.org)
  • DOI: https://doi.org/10.3201/eid2401.170430 were tested for their plaque phenotypes in BSC-40 cells incu- bated at 37°C for 48 h ( 4 ), which demonstrated the presence of We studied a clinical case of vaccinia virus that caused an at least 2 types of viral populations comprising small and large ocular manifestation in a dairy worker in Brazil. (cdc.gov)
  • Nevertheless, the heterogeneous clinical phenotype may present a challenge, particularly for patients with only ocular phenotypes. (molvis.org)
  • The clinical phenotype of ADAMTSL4 -associated ectopia lentis was summarized and expanded. (molvis.org)
  • Clinical features typically include severe psychomotor developmental delay, cardiac disease, dysmorphic features, postnatal growth failure, and hypotonia, although there is significant variability in the severity of the phenotype among affected individuals. (hindawi.com)
  • Ocular Oncology and Pathology provides a selection of topical clinical and basic research articles covering the etiology, pathology, diagnostic techniques, imaging features, and advances in medical and surgical treatment of ophthalmic cancers. (karger.com)
  • 2 In addition, the varied clinical presentations of MND also include (i) progressive muscle atrophy (PMA, ~ 10% of MND cases), a clinically pure lower motor neuron (LMN) phenotype, (ii) primary lateral sclerosis (PLS, 1-3% of MND cases), a clinically pure upper motor neuron (UMN) phenotype and (iii) progressive bulbar palsy (PBP, 1-2% of MND cases), an isolated bulbar phenotype with relative preservation of spinal motor neurons. (acnr.co.uk)
  • 3,4 Despite the clinical heterogeneity, median survival of MND remains three years, although the atypical phenotypes exhibit a longer survival. (acnr.co.uk)
  • Application ontology for Ocular Immune-mediated Inflammatory Diseases, built from domain experts in ophthalmology, clinical guidelines, and enhanced with patient-preferred terms. (biokeanos.com)
  • Shifting from a subtype focus to individual clinical findings or a phenotype classification allows both for better selection of treatment modalities and improved ability to conduct research," says Dr. James, co-author of a recent clinical review that evaluates the new rosacea classification and its controversies. (dermatologytimes.com)
  • This work expands the electroclinical phenotype of NGLY1 deficiency and supports a high clinical suspicion for seizures. (stanfordchildrens.org)
  • In this retrospective electronic health record (EHR) cohort study, we applied a computational framework for knowledge discovery from clinical data, MLHO, to identify phenotypes that positively associate with a past positive reverse transcription-polymerase chain reaction (RT-PCR) test for COVID-19. (biomedcentral.com)
  • To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
  • Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Objective To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO). (bmj.com)
  • To our knowledge, there is no study on the ophthalmic phenotypes of TCIRG1 mutations in patients with IMO. (bmj.com)
  • Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. (cancerindex.org)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Clinicians should be aware of the varied ocular phenotype and the risks of retinal detachment, ocular hypertension, and glaucoma in the diagnosis and management of this condition. (molvis.org)
  • This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)
  • Our research focuses on the study of steroid treatments, including the use of dexamethasone (Dex), which mediated the increase of IOP and the risk of ocular hypertension leading to steroid-induced glaucoma. (uclahealth.org)
  • The most common (classic or typical features) include corneal clouding, ocular hypertension and glaucoma, retinopathy and optic disc involvement (optic disc swelling or atrophy). (eyewiki.org)
  • Visually enhanced vestibulo-ocular reflex gain in patients with vestibular disease. (iasp-pain.org)
  • Visually enhanced vestibulo-ocular reflex (VVOR) gain, a measure of the visual-vestibular interaction, has been proposed as a tool for diagnosing VM. (iasp-pain.org)
  • During performance of the vestibulo-ocular reflex in the dark, calcium increased during contraversive head rotation and the associated ipsiverse eye movements. (stanford.edu)
  • Two patients had normal neuroradiologic findings, emphasizing that some affected individuals have isolated ocular disease. (nih.gov)
  • In 2016, the global rosacea consensus panel recommended a new classification: at least one diagnostic or two major phenotypes are required for the diagnosis of rosacea. (medscape.com)
  • The diagnosis of rosacea is made clinically, based on the 2016 global rosacea consensus that one diagnostic or two major phenotypes are required for the diagnosis of rosacea. (medscape.com)
  • Awareness of the ocular phenotype may aid early diagnosis, appropriate genetic counseling, and monitoring for potential complications. (nih.gov)
  • Discussion These siblings present with a milder phenotype and extrapyramidal signs, in keeping with recent descriptions of variant A-T. The absence of elevated α-fetoprotein levels should not deter physicians in pursuing this diagnosis. (bmj.com)
  • Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. (cdc.gov)
  • Its metastatic potential depends on the phenotype of the tumor cells, and it frequently disseminates before diagnosis. (medscape.com)
  • Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. (nih.gov)
  • In this study, we summarize the ocular and systemic phenotypic spectrum of this condition. (molvis.org)
  • In this report, we summarize the ocular features of the syndrome from a systematic review of the literature and additionally present a young female with the syndrome who initially presented with growth restriction, failure to thrive, and hypotonia. (hindawi.com)
  • The project aim is to determine the molecular pathology of a set of three disorders exhibiting a similar congenital ocular phenotype in which the fovea and macular do not develop normally. (fightforsight.org.uk)
  • Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. (cdc.gov)
  • Results Despite similar ocular surface findings, patients in the high NOP group had very different systemic (non-ocular) profiles with higher overall pain intensity ratings, higher frequency of comorbid chronic centralised pain conditions, lower quality-of-life indices and more abnormal mental health scores than those in the low NOP group. (bmj.com)
  • 1 Treatment options are often chosen on the basis of these presumed ocular abnormalities despite the fact that previous literature indicates that objective ocular physical findings do not correlate well with DE symptoms. (bmj.com)
  • Ocular and systemic findings, complications, and genetic findings of all four individuals were collected and summarized. (molvis.org)
  • The new guidelines, published in 2018, have abandoned the four main subtypes (erythematolelangiectatic [ETR], papulopustular, phymatous and ocular), replacing them with a phenotype system based upon mostly observable findings. (dermatologytimes.com)
  • All patients underwent full ocular and systemic examinations. (molvis.org)
  • In this study, 12 Chinese probands lacked obvious systemic phenotypes. (molvis.org)
  • The constellation of facial and ocular symptoms was observed in association with systemic symptoms (e.g., fever, painful cervical adenopathy) and risk factors for sexual transmission. (cdc.gov)
  • Conclusions Consistent with a chronic overlapping pain condition, patients with DE disease with more severe NOP symptoms report more frequent and severe non-ocular functional comorbid pain disorders. (bmj.com)
  • From a systematic review of previously published cases to date, ocular abnormalities are present in more than half of patients with the syndrome. (hindawi.com)
  • For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. (medlineplus.gov)
  • We speculate that the type and severity of ocular defects present in individuals with the NAA10 -related syndrome are dependent on the specific NAA10 pathogenic variant involved. (hindawi.com)
  • In the present study, we evaluated whether and how a novel engineered version of fibroblast growth factor-1 (FGF-1), designated as TTHX1114, would reduce the severity of HSV-1-induced and recurrent ocular herpes in the mouse model. (escholarship.org)
  • [2] Ocular pathology is common in all types of MPS, but its frequency, severity and ocular localization vary according to the MPS subtype. (eyewiki.org)
  • However, other sporadic reports of anomalies, such as congenital heart defects, will need further investigation in epidemiologic studies to exclude coincidental associations and define a more complete CZS phenotype. (medscape.com)
  • Future studies should assess the correlation of TCIRG1 gene mutation and the mechanism of ocular sign occurrence. (bmj.com)
  • Additionally, we are studying the isolation, culture, and mechanical property characterization of cells residing within the trabecular meshwork, an ocular tissue responsible for intraocular pressure homeostasis. (uclahealth.org)
  • Tissue-wise, these studies encompass differentiating ocular lens fiber cells, the retina, the brain and the heart. (uclahealth.org)
  • The ocular tissue where these tumors arise, the uvea, is a densely pigmented layer that lies for the most part between the sclera and the retina. (medscape.com)
  • Phenotypes of conjunctival inflammatory cells in sarcoidosis. (bmj.com)
  • Corneal scarring and vision loss are potential severe consequences of ocular involvement of mpox virus infection. (cdc.gov)
  • Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. (jax.org)
  • Ocular involvement is frequent and may lead to severe visual impairment. (eyewiki.org)
  • Classic A-T presents with ataxia and ocular telangiectasia in association with immunodeficiency, increased risk for malignancy, increased serum α-fetoprotein levels, radiosensitivity, and chromosomal instability. (bmj.com)
  • Dry eye disease (DED) represents a heterogeneous and multifactorial group of disorders that affects the tears and ocular surface and results in discomfort and unpleasant visual phenomena, and in some cases, damage to the ocular surface. (bmj.com)
  • The discrepancy between symptoms and signs of disease may be partially explained by another, less-well-studied, component of DE, namely the presence of neuropathic ocular pain (NOP). (bmj.com)
  • The C-terminal clustering of the identified alleles indicates a possible common mechanism for ocular disease. (nature.com)
  • [ 5 ] As data emerge related to the spectrum of phenotypes of disease caused by the current viral clade, additional information on the true rate of ocular involvement may become available. (cdc.gov)
  • If ocular involvement of mpox virus is suspected, then ophthalmologic consultation should be strongly considered for a thorough evaluation and continued monitoring of the patient's condition and extent of disease, especially in cases of vision changes, eye pain, or increasing redness. (cdc.gov)
  • 16 Extra-ocular and sphincter muscles are preserved until advanced stages of the disease, 17 and sensory nerves are not typically affected. (acnr.co.uk)
  • Healing of Ocular Herpetic Disease Following Treatment With an Engineered FGF-1 Is Associated With Increased Corneal Anti-Inflammatory M2 Macrophages. (escholarship.org)
  • Herpes simplex virus 1 (HSV-1) infects the cornea and caused blinding ocular disease. (escholarship.org)
  • Two interrelated paradigms currently under investigation are: 1) Molecular basis of the differential expression of the gene for the small heat shock protein Alpha B-crystallin, a protein associated with with vision (e.g. in the ocular lens), oncogenesis (e.g. in breast cancer) and neural degeneration (e.g. in Alzheimer's disease). (uclahealth.org)
  • [ 6 ] that was found to normalize the biochemical phenotype and prevent disease progression. (medscape.com)
  • Recognizing the congenital Zika syndrome (CZS) phenotype defined by the Centers for Disease Control and Prevention (CDC) allows clinicians to provide comprehensive workup and management for infants and children, according to a literature review published online November 3 in JAMA Pediatrics . (medscape.com)
  • He had le- sions on the left hand, right arm, and nose and an atypical manifestation in the left eye with aches in the ocular globe and periorbital region. (cdc.gov)
  • Ocular involvement is a potentially debilitating manifestation for people experiencing mpox virus infection. (cdc.gov)
  • Ocular features in MPSs are very frequent, many of those represent an early manifestation of MPS and result in significant visual impairment. (eyewiki.org)
  • [13] In a tertiary centre in Portugal, all 5 patients with MPS type VI presented corneal clouding and this was the first ocular manifestation. (eyewiki.org)
  • Variability in the ocular phenotype in mucopolysaccharidosis. (cdc.gov)
  • La información más reciente sobre el nuevo Coronavirus de 2019, incluidas las clínicas de vacunación para niños de 6 meses en adelante. (stanfordchildrens.org)
  • According to the locus heterogeneity and differences in the vitreous phenotype, Stickler syndrome is primarily classified into six subtypes. (molvis.org)
  • A milder NAA10 -related intellectual disability phenotype associated with different variants has also been described. (hindawi.com)
  • Variant A-T presents as a milder phenotype with an extended lifespan and may be due to residual ATM kinase activity. (bmj.com)
  • Objective To study chronic pain and mental health profiles in patients with dry eye (DE) symptoms, comparing those with high and low levels of neuropathic ocular pain (NOP) complaints. (bmj.com)
  • This study seeks to evaluate VVOR gain's diagnostic capability to predict VM and to compare the phenotypes of vestibular patients with elevated versus normal/low VVOR gain. (iasp-pain.org)
  • However, the landscape of heteroplasmy across cell types within tissues and its influence on phenotype expression in affected patients remains largely unexplored. (jci.org)
  • All identified phenotypes were newly recorded in patients' medical records 2 months or longer after a COVID-19 RT-PCR test in non-hospitalized patients regardless of the test result. (biomedcentral.com)
  • Additionally, more than 63% of PASC phenotypes were observed in patients under 65 years of age, pointing out the importance of vaccination to minimize the risk of debilitating post-acute sequelae of COVID-19 among younger adults. (biomedcentral.com)
  • High myopia was the most frequent initial ocular phenotype of Stickler syndrome. (molvis.org)
  • The phenotype of Stickler syndrome is complicated and develops over a lifetime. (molvis.org)
  • COL2A1 and COL11A1 are common candidate genes for Stickler syndrome, and both are related to the form of Stickler syndrome with an obvious ocular phenotype. (molvis.org)
  • Since the initial report, this description of Ogden syndrome has broadened to include a variety of phenotypes categorized as NAA10 -related syndrome [ 2 ]. (hindawi.com)
  • Based on these similarities, researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms. (medlineplus.gov)
  • Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. (iowaodes.com)
  • Dr. James believes the new phenotype classification system fails to improve on the separation of the polar ends of the rosacea spectrum. (dermatologytimes.com)
  • Defective development of the embryonic radial ray (eg, aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. (medscape.com)
  • case of ocular vaccinia infection. (cdc.gov)
  • Accurate identification of PASC phenotypes will be important to guide future research and help the healthcare system focus its efforts and resources on adequately controlled age- and gender-specific sequelae of a COVID-19 infection. (biomedcentral.com)
  • We identified 33 phenotypes among different age/gender cohorts or time windows that were positively associated with past SARS-CoV-2 infection. (biomedcentral.com)
  • 1 Amyotrophic lateral sclerosis (ALS) is the commonest MND phenotype, clinically characterised by progressive neurological deterioration and co-existence of upper and lower motor neuron signs. (acnr.co.uk)
  • She exhibits focal dystonia and blepharospasm, in addition to ocular telangiectasia. (bmj.com)
  • Because the maintenance of stem cell characteristics in the process of cell culture expansion is essential for the success of ocular surface reconstruction, the small molecules generated in this project may also be helpful in the development of novel pharmaceutical reagents for treating other corneal epithelial disorders. (uclahealth.org)
  • Specifically, the employment of BC-Ppy compositesdrives partial H9c2 differentiation toward a cardiomyocyte-like phenotype.The scaffolds increase the expression of functional cardiac markersin H9c2 cells, indicative of a higher differentiation efficiency,which is not observed with plain BC. (ibecbarcelona.eu)
  • These studies entail attempts at relating gene activity to the functional phenotype of vision. (uclahealth.org)
  • Previously unpublished original scientific work with emphasis on ocular oncology or pathology. (karger.com)
  • 3 ] Ocular melanoma is the most common cancer of the eye, with approximately 2,000 cases diagnosed annually. (cancer.gov)
  • In the current ongoing mpox virus outbreak, ocular involvement has been uncommon with retrospective evidence reporting that less than 1% of individuals had eye involvement. (cdc.gov)
  • This may encourage better understanding of the mechanism of ocular sign occurrence and more targeted treatment of IMO. (bmj.com)
  • Subsequent analyses were performed to examine differences in ocular and non-ocular parameters between these two groups. (bmj.com)
  • Brain, cardiac, urogenital and ocular malformations may be associated. (orpha.net)
  • The principal structural defect involves the cardiovascular, musculoskeletal, and ocular systems. (msdmanuals.com)
  • Following laser injury to the retina, IL-10 was upregulated and Fas ligand (FasL), IL-12, and TNF-α were downregulated in ocular macrophages of old mice (>18 months of age). (jci.org)
  • Downregulation of FasL on macrophages led to a loss of the antiangiogenic phenotype, as evidenced by the inability of these macrophages to inhibit vascular endothelial cells. (jci.org)
  • This polarization toward M2 phenotype was confirmed in vitro on human primary macrophages. (escholarship.org)
  • Blood-ocular barrier permeability in monkeys. (bmj.com)
  • Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart. (cdc.gov)
  • In combination with the mouse model, this study supports a role for ARHGAP35 in vertebrate ocular development. (nature.com)
  • however, it has been shown to play a role in the regulation of embryonic and ocular development. (cancerindex.org)
  • This phenotype development effort sought first, through multiple clinician review, to evaluate all of the procedures in CPT4, HCPCS, ICD9Proc, and ICD10PCS for which one can infer that it is moderately to highly probable that the patient experienced some form of injury from an external cause. (ohdsi.org)
  • An evaluation was performed consisting of questionnaires regarding DE symptoms, NOP complaints (burning, sensitivity to wind, light and cold/hot temperatures) and pain elsewhere in the body (non-ocular). (bmj.com)