Результаты поиска

[PAX6 mutation caused brain abnormalities in humans].

OBJECTIVE: To investigate the association between PAX6 mutation and brain abnormalities. METHODS: The brain structures of 18 affected patients and 6 normal controls in a large pedigree with a PAX6 mutation (c1080C-->T)were scanned with MRI assessing. RESULTS: Most of the affected patients showed brain abnormalities such as corpus callosum degeneration, broad cerebral ventricle grooves and broad olfactory grooves. CONCLUSION: Genetic defect of PAX6 gene may result in brain abnormalities.

Descemet stripping endothelial keratoplasty after Ophtec 311 iris reconstruction lens implantation.

PURPOSE: To describe the variations in intraoperative technique, postoperative complications, and visual outcomes associated with Descemet s … lure before DSEK. CONCLUSIONS: DSEK can be successfully performed in eyes with partial or complete aniridia, such as those after Ophtec iris reconstruction lens implantation. Modifications to the standard DSEK technique increase the probability of successful donor adherence and decrease the risk of posterior dislocation of the donor corneal button. Howeve …

[Introduction to genetics in ophthalmology. Value of family studies].

This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing … e mutation in the paired domain of the PAX 6 gene, hence conforming to a forme fruste of congenital aniridia. SORSBY'S FUNDUS DYSTROPHY: Two Japanese families with Sorsby's fundus dystrophy showed late-onset retinal dystrophy characterized by submacular hemorrhage and atrophy. Our patients presented with visual loss as late as 50 years of age or older due …

Classifications of anterior segment structure of congenital corneal opacity in infants and toddlers by ultrasound biomicroscopy and slit-lamp microscopic photographs: an observational study.

BACKGROUND: The structural features have an impact on the surgical prognosis for congenital corneal opacity (CCO). The structural classifica … 2, central anterior synechia; U3, peripheral anterior synechia combined with angle closure; and U4, aniridia or lens anomaly. The opacity appearance and corneal vascularization density observed in slit-lamp photographs were assigned grades according to previous studies. The extent of vascularization was also recorded. The corresponding intraocular anomaly …

Glaucoma associated with Boston type I keratoprosthesis.

PURPOSE: To evaluate outcomes of the Boston type I keratoprosthesis (KPro) and associated incidence of glaucoma. DESIGN: Retrospective coho … dures were performed in 23% of eyes for limbal stem cell deficiency secondary to chemical burns and aniridia and for herpetic disease. Median preoperative BCVA was hand motions with an overall improvement to 20/330 (range, 20/20 to hand motions) at 9 months postoperatively; mean BCVA was 20/600 (range, 20/40 to NLP) at the last follow-up. Twenty eyes (67%) …

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability. GLSP is caused by either biallelic or heterozygous, dominant-negative, pathogenic variants in ITPR1. Here, we present a 5-year-old male with GLSP who was found to have a heterozygous, de novo intronic variant in ITPR1 (NM_001168272.1:c.5935-17G > A) through genome sequencing (GS). Sanger sequencing of cDNA from this individual's fibroblasts showed the retention

Intraocular lens power calculation formulas: a scientometric analysis.

BACKGROUND: The most accurate method of intraocular lens (IOL) power calculation in cataract surgery has not been determined, and further st … distinct departments: the Dr. Rolf M. Schwiete Center for Limbal Stem Cell Research and Congenital Aniridia, as well as the Department of Experimental Ophthalmology. The School of Physical Science at the Open University in the United Kingdom engaged in partnership with various institutions including Eye & Laser Clinic Castrop Rauxel in Germany and Johanne …

Results of Treatment for Patients With Multicentric or Bilaterally Predisposed Unilateral Wilms Tumor (AREN0534): A report from the Children's Oncology Group.

BACKGROUND: A primary objective of Children's Oncology Group study AREN0534 (Treatment for Patients With Multicentric or Bilaterally Predisposed, Unilateral Wilms Tumor) was to facilitate partial nephrectomy in 25% of children with bilaterally predisposed unilateral tumors (Wilms tumor/aniridia/genitourinary anomalies/range of developmental delays [WAGR] syndrome; and multifocal and overgrowth syndromes). The purpose of this prospective study was to achieve excellent event-free survival (EFS) and overall survival (OS) while preserving renal tissue through preoperative chemotherapy, completing …

Characterization of ex vivo cultured limbal, conjunctival, and oral mucosal cells: A comparative study with implications in transplantation medicine.

PURPOSE: Limbal epithelial stem cell deficiency is caused by exposure of the cornea to thermal, chemical, or radiation burns or by diseases (aniridia and Stevens-Johnson syndrome). Autologous cell transplantation is a widely used therapeutic modality for restoring the corneal surface in such pathological conditions. Ex vivo cultured limbal, conjunctival, and oral biopsies have been widely used to reconstruct the corneal surface with variable outcomes. Culture characterization of the ex vivo cultured cells would provide insight and clues into the underlying signaling mechanisms that would aid i…

[Cases of congenital eye malformations in children].

PURPOSE: The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and c … ratopathy, microcornea, sclerocornea, congenital mesenchymal dysgenesis), coloboma of the iris, and aniridia. Additionally, ectopic pupil, congenital cataract, aplasia of the lacrimal point, and palpebral coloboma were observed. Developmental anomalies of the posterior segment of the eye in the form of persistent hyperplastic primary vitreous body or prima …

[Genetics of renal tumors].

The quintessence of malignant transformation is the genetic alteration of the tumor progenitor cell, i.e. somatic mutation. The genetic change appearing at chromosome and/or gene level results in the disturbance of the balance of cell proliferation and differentiation. In solid tumors, including renal tumors, the basic genetic mechanism proved to be the loss of function of a specific gene pair caused by loss of the particular chromosome or chromosomal region (monosomy, deletion) or by mutation of the gene. In the well studied Wilms' tumor-aniridia-syndrome the distal part of 11p13 region is de…

Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is caused by mutations in ≥10 different genes, of which transglutaminase-1 (TGM1) predominates. A rare form is ichthyosis prematurity syndrome (IPS) caused by mutations in SLC27A4 encoding fatty acid transporter protein 4 (FATP4), believed to be an acyl-CoA synthetase activating long- and very-long-chain FA. Another ARCI is caused by mutations in NIPAL4, coding for ichthyin, which is proposed to be a magnesium transporter or a trans-membrane receptor. A possible interaction between FATP4 and ichthyin has not been studied before. OBJ

Distinct retinal oxygenation patterns in acute zonal occult outer retinopathy assessed by multimodal imaging.

PURPOSE: Acute zonal occult outer retinopathy (AZOOR) is a rare outer retinal disorder that may mimic inherited retinal dystrophy. This stud … median age 28 years, range 20-53). Six patients presented unilaterally; one patient had congenital aniridia bilaterally but AZOOR was clinically assigned to one presenting eye. Ellipsoid-zone disruption on SD-OCT was present in all affected eyes. MfERG demonstrated macular dysfunction in six of seven patients, whereas ffERG was abnormal in five of seven p …

Long-term outcome of keratolimbal allograft with or without penetrating keratoplasty for total limbal stem cell deficiency.

PURPOSE: To evaluate the long-term outcome of ocular surface reconstruction, including keratolimbal allograft (KLAL) and amniotic membrane t … ith other causes of LSCD, including ocular cicatricial pemphigoid, atopic keratoconjunctivitis, and aniridia. INTERVENTION: All patients underwent KLAL and AMT by one surgeon (SCGT). If needed, PKP was performed at the same surgical setting using tissue from the same donor. MAIN OUTCOME MEASURES: Cumulative rates of survival of ambulatory vision (> or = …

Wilms' tumour: reconciling genetics and biology.

Wilms' tumour, a paediatric malignancy of the kidney, is a striking example of the relationship between aberrant development and cancer. Several different genetic loci have been implicated in the aetiology of the tumour; genomic imprinting also plays a role. One Wilms' tumour predisposition gene (WT1), encoding a zinc finger protein, is expressed in a limited set of tissues, including developing nephrons and gonads. The biology and genetics of Wilms' tumour underline the developmental relationship between kidneys and gonads.

Analysis by array CGH of genomic changes associated with the progression or relapse of Wilms' tumour.

Despite aggressive salvage regimens, approximately half of all children who suffer a Wilms' tumour recurrence will die of their disease. Although there are increasing data on molecular genetic prognostic factors present in the tumour at diagnosis, there is little information regarding the molecular events that occur with Wilms' tumour progression and relapse. In the present study, microarray-based comparative genomic hybridization (aCGH) analysis has been carried out on 58 Wilms' tumour samples, which included 38 untreated primary and 20 recurrent tumours. A higher degree of copy number change

Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.

OBJECTIVE: To investigate the feasibility of handheld (HH) ultra-high-resolution spectral-domain optical coherence tomography (SD-OCT) in young children with nystagmus, to determine its sensitivity and specificity in classifying foveal abnormalities, and to investigate its potential to determine the cause of infantile nystagmus with the use of foveal morphology. DESIGN: Prospective, case-control study. PARTICIPANTS AND CONTROLS: A total of 50 patients with nystagmus and 50 healthy control subjects (mean age, 3.2 years; range, 0-8 years). METHODS: Each patient was scanned using HH SD-OCT (Bi

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.

Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin

Практическое руководство по клиническому лечению окулярных неблагоприятных явлений, связанных с белантамбовым мафодотином у пациентов с повторной/редактированной множественной миеломой: рекомендации группы экспертов Японии.

Существенной причиной смертности является множественная миелома, а лечение пациентов с множественными миеломами с рецидивом/перестройкой имеет ограниченную эффективность. Режимы лечения с использованием белантамаба мафодотина свидетельствуют о значительном улучшении положения в плане обеспечения бесперебойного выживания по сравнению с нынешними стандартными режимами ухода, однако они связаны с повышенным риском возникновения окулярных неблагоприятных явлений (ОАЭ). Цель этих практических руководящих принципов состоит в том, чтобы дать рекомендации для оказания помощи японским врачам в управлен

Совпадение в полном тексте источника
… Patients who may develop limbal stem cell deficiency include patients with congenital disorders (such as aniridia and sclerosing cornea), traumatic disorders (such as thermal or chemical burns of the ocular surface resulting in damage to limbal stem cells), or endogenous disorders (such as Stevens–Johnson …