Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.

Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.

Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using Confocal Laser Scanning Microscopy.

Purpose: During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using confocal laser scanning microscopy CLSM.

A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis.

Cystinosis is a low-prevalence lysosomal storage disease. The pathomechanism involves abnormal functioning of the cystinosine lysosomal cystine transporter (CTNS), causing intraliposomal accumulation of the amino acid cysteine disulfide, which crystallizes and deposits in several parts of the body. The most common ophthalmic complication of cystinosis is the deposition of "gold dust" cystine crystals on the cornea, which already occurs in infancy and leads to severe photosensitivity and dry eyes as it gradually progresses with age.

[Congenital aniridia patients' experience on their visual impairment in Hungary.].

Introduction: Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.

Objective: To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a questionnaire developed by the ANIRIDIA-NET.

Patients And Method: Patients completed the Hungarian version of the 20-item ANIRIDIA-NET questionnaire with our assistance.

[Congenital aniridia - Hungarian data of a spectrum disease].

Introduction: Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye.

Objective: To determine the prevalence of ocular diseases in congenital aniridia by analyzing patients from a Hungarian centre.

Patients And Methods: Patients at the Department of Ophthalmology of Semmelweis University, examined between October 2005 and May 2022, have been included.

[Ocular treatment of cystinosis with eye drop containing cysteamine].

Cystinosis is a rare lysosomal storage disease affecting amino acid metabolism, characterized by the accumulation and crystallization of cystine in various tissues, primarily in the eye and kidney. The major ophthalmic symptom is photophobia, which is related to the corneal deposition of cystine crystals. The light sensitivity significantly impairs the quality of life of the affected patients, thus, effective ophthalmic treatment to reduce the crystal density is very importance.

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

Beta-tubulin 4B isotype is one of the subunits of microtubules encoded by TUBB4B gene on chromosome 9, which is responsible for the maintenance of microtubule stability. In humans, mutations in microtubule-encoding genes have been associated with several tubulinopathies with very heterogeneous symptoms. So far, only two missense mutations in TUBB4B gene have been found to have pathological implications in this disorder.

Adjuvant therapy of histopathological risk factors of retinoblastoma in Europe: A survey by the European Retinoblastoma Group (EURbG).

Introduction: Advanced intraocular retinoblastoma can be cured by enucleation, but spread of retinoblastoma cells beyond the natural limits of the eye is related to a high mortality. Adjuvant therapy after enucleation has been shown to prevent metastasis in children with risk factors for extraocular retinoblastoma. However, histological criteria and adjuvant treatment regimens vary and there is no unifying consensus on the optimal choice of treatment.

[Axenfeld–Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options].

Összefoglaló. Az Axenfeld-Rieger-szindróma ritka betegség. A közlemény bemutatja a klinikai megjelenési formáit, a diagnosztikus és terápiás lehetőségeket.

Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.

Background: The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.

Methods: A cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.

Pseudouridylation defect due to and mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in , , or cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition.

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study.

Background: Presence of corneal cystine crystals is the main ocular manifestation of cystinosis, although controversial findings concerning the corneal layer with the highest density have been reported. The aim of this study was the analysis of the characteristics of crystal arrangement in different corneal layers and the assessment of corneal morphological changes with age.

Methods: A cross sectional study was carried out in three children and three adults who had nephropathic cystinosis and corneal cystine depositions.

The validity of telemedicine-based screening for retinopathy of prematurity in the Premature Eye Rescue Program in Hungary.

Purpose: To assess the validity of wide-field digital imaging (WFDI) and telemedicine-based screening compared with examination by binocular indirect ophthalmoscopy (BIO) and to present some of the results from the first five years of telemedicine-based screening in the Premature Eye Rescue Program in Hungary.

Methods: We performed a retrospective analysis in two periods that aimed to assess (a) the validity of retinal digital imaging and (b) routine bedside screening. The validity was assessed in two neonatal intensive care units (NICUs), one in the First Department of Paediatrics and the other in the Second Department of Obstetrics and Gynaecology, Semmelweis University.

Clinicopathological Review of 547 Bulbar Enucleations in Hungary (2006-2017).

Purpose: To analyse current clinicopathological enucleation indications in a large third-referral centre in a developed country (Hungary) over a period of 12 years.

Methods: Retrospective review was performed on 547 enucleated eyes of 543 patients (48.6% males, age 52.

Preoperative biometry data of eyes with unilateral congenital cataract.

Purpose: To investigate the differences in biometry data of eyes with unilateral congenital cataract and the contralateral normal eyes in pediatric patients.

Setting: Pediatric Ophthalmology Division, Ophthalmology Department, Semmelweis University in Budapest, Hungary.

Design: Retrospective case series.

Bedside ROP screening and telemedicine interpretation integrated to a neonatal transport system: Economic aspects and return on investment analysis.

Background And Aim: Peter Cerny Ambulance Service - Premature Eye Rescue Program (PCA-PERP) uses digital retinal imaging (DRI) with remote interpretation in bedside ROP screening, which has advantages over binocular indirect ophthalmoscopy (BIO) in screening of premature newborns. We aimed to demonstrate that PCA-PERP provides good value for the money and to model the cost ramifications of a similar newly launched system.

Methods: As DRI was demonstrated to have high diagnostic performance, only the costs of bedside DRI-based screening were compared to those of traditional transport and BIO-based screening (cost-minimization analysis).

[Laser treatment for retinopathy of prematurity in neonatal intensive care units. Premature Eye Rescue Program].

Introduction: Retinopathy of prematurity is a leading cause of childhood blindness around the world.

Aim: The Department of Ophthalmology at the Semmelweis University and the Peter Cerny Neonatal Emergency and Ambulance Service started an innovative Premature Eye Rescue Program to reduce the non-essential transport of premature babies suffering from retinopathy of prematurity.

Method: During the first 5 years 186 eyes of 93 premature babies were treated at the bedside with stage 3 retinopathy of prematurity in the primary hospitals.

Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy.

The most frequent form of hereditary blindness, autosomal dominant optic atrophy (ADOA), is caused by the mutation of the mitochondrial protein Opa1 and the ensuing degeneration of retinal ganglion cells. Previously we found that knockdown of OPA1 enhanced mitochondrial Ca(2+) uptake (Fülöp et al., 2011).

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

Background: The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. While it has been reported in unaffected controls, it is enriched in patients with SRNS, suggesting pathogenicity.

Measurements of orbital volume using cone-beam computed tomography in eye movement abnormalities.

Purpose: To measure the orbital volume in adult patients with unilateral eye movement abnormalities originating in childhood.

Methods: Cone-beam computed tomography was performed in 2 patients with eye movement abnormalities. A 28-year-old woman was treated because of right divergent squint originating at 8 years of age after penetrating corneal trauma.