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Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

The standard visual acuity measurements rely on stationary stimuli, either letters (Snellen charts), vertical lines (vernier acuity) or grating charts, ...

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Erratum: Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

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Medical University of Warsaw

To evaluate the refractive results in patients with intraocular lenses fixated in the sulcus of posterior chamber. Sulcus fixation causes a more anterior position of IOL than had been intended during the preoperative power calculation. A lack of correction of the IOL's power results in a myopic shift.

A retrospective analysis of the intraocular lens power calculation in cases of sulcus fixation.

The aim of the study was to evaluate the intraoperative complications during phacoemulsification of a posterior polar cataract, especially the risk of posterior capsule rupture.

The complications during phacoemulsification in patients with posterior polar cataract.

The aim of this study was to evaluate the impact of capsulorhexis diameter, localization and shape on posterior capsule opacification (PCO) development after cataract extraction with phacoemulsification.

The impact of capsulorhexis diameter, localization and shape on posterior capsule opacification.

RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in two patients; however, the diagnosis of MPS was excluded in both cases. Furthermore, screening of control DNA samples (n = 810) from a general Polish population, using allele-specific PCR and direct DNA sequencing for verification, identified p.D59G in 8/405 males and 12/405 females. High prevalence of the p.D59G variant (2.47%) is typical for a common genetic variation observed in asymptomatic individuals. Our data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in MPS. Considering an increasing use of next-generation sequencing in the clinical setting, our finding is of practical diagnostic importance.

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not previously investigated cohort with ABCA4-related diseases originating from Central Europe and to refine the genetic relevance of all identified variants based on population evidence. Comprehensive clinical studies were performed to identify patients with Stargardt disease (STGD, n = 76) and cone-rod dystrophy (CRD, n = 16). Next-generation sequencing targeting ABCA4 was applied for a widespread screening of the gene. The results were analyzed in the context of exome data from a corresponding population (n = 594) and other large genomic databases. Our data disprove the pathogenic status of p.V552I and provide more evidence against a causal role of four further ABCA4 variants as drivers of the phenotype under a recessive paradigm. The study identifies 12 novel potentially pathogenic mutations (four of them recurrent) and a novel complex allele p.[(R152*; V2050L)]. In one third (31/92) of our cohort we detected the p.[(L541P; A1038V)] complex allele, which represents an unusually high level of genetic homogeneity for ABCA4-related diseases. Causative ABCA4 mutations account for 79% of STGD and 31% of CRD cases. A combination of p.[(L541P; A1038V)] and/or a truncating ABCA4 mutation always resulted in an early disease onset. Identification of ABCA4 retinopathies provides a specific molecular diagnosis and justifies a prompt introduction of simple precautions that may slow disease progression. The comprehensive, population-specific study expands our knowledge on the genetic landscape of retinal diseases.

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

We evaluated correlations between positive findings of changes on brain magnetic resonance imaging (MRI) and selected morphological and electrophysiological parameters of the retinal and visual systems in Wilson's disease. Fifty-eight Wilson's disease symptomatic patients were divided according to whether they displayed brain changes on MRI (positive, n = 39; negative, n = 19). All participants and healthy control group (n = 30), underwent retinal optical coherence tomography to assess the thickness of macula and the total retinal nerve fiber layer. Visual evoked potentials were measured and electroretinography was performed. Macular and retinal nerve fibers were thinner in participants with changes on MRI than in participants without changes. Electrophysiological parameters were markedly different in the MRI positive group compared with the negative group and 30 healthy controls; however, some abnormalities were evident in cases without visible brain pathology. Morphological and electrophysiological changes of retinal and visual pathways are associated with MRI visualized brain injury in Wilson's disease and may be useful for detecting the degree of neurodegeneration.

Optical coherence tomography and electrophysiology of retinal and visual pathways in Wilson's disease.

We present a case of diagnostic and surgical management in an amblyopic eye following penetrating trauma in childhood. The 75-year-old female patient experienced the trauma at the age of 4. The eye was amblyopic, but after thorough investigations (ultrasonography, ultrabiomicroscopy, visual evoked potentials) the eye underwent anterior segment reconstruction. Visual evoked potentials allowed us to assess optic nerve function, while ultrabiomicroscopy allowed us to plan the surgical procedure. Although we observed quite a small visual acuity improvement, the subjective improvement reported by the patient was fairly significant (NEI VFQ-25 questionnaire). The cosmetic effect of the black pupil was also important.

Is it appropriate to perform anterior segment reconstruction in amblyopic eye following penetrating trauma in childhood?

Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded by nonsense-mediated mRNA decay (NMD), however very little is known about an effect of OPA1 mutations on NMD activation. Here, using a combination of linkage analysis and DNA sequencing, we have identified a novel c.91C>T OPA1 mutation with a putative premature stop codon (Q31*), which segregated with ADOA in two Polish families. At the mRNA level we found no changes in the amount of OPA1 transcript among mutation carriers vs. non-carriers. Specific allele quantification revealed a considerable level of the OPA1 mutant transcript. Our study identifies a novel pathogenic OPA1 mutation and shows that it is located in the transcript region not prone for NMD activation. The data emphasizes the importance of analyzing how mutated genes are being processed in the cell. This gives an insight into the molecular mechanism of a genetic disease and promotes development of innovative therapeutic approaches.

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

 gene mutations are the cause of a spectrum of  retinopathies, and the most common juvenile macular degeneration is called Stargardt disease.  has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of  variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the  gene splice-site variants in patients with  retinopathies. We assessed  expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length  transcripts and analyzed  transcripts from three patients with Stargardt disease carrying different splice-site  variants: c.5312+1G>A, c.5312+2T>G and c.5836-3C>A. cDNA analysis revealed that c.5312+1G>A, c.5312+2T>G variants led to the skipping of exon 37, and the c.5836-3C>A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of  variants in patients with  retinopathies.

Molecular Analysis of the  Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form.

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.

Damage of retinal representation of the visual field affects its local features and the spared, unaffected parts. Measurements of visual deficiencies in ophthalmological patients are separated for central (shape) or peripheral (motion and space perception) properties, and acuity tasks rely on stationary stimuli. We explored the benefit of measuring shape and motion perception simultaneously using a new motion-based acuity task.

Kamil Szulborski

Department of Ophthalmology

Medical University of Warsaw

Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

Erratum: Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

Kamil Szulborski

.css-o250i3{font-size:18px;font-family:Open Sans,sans-serif;line-height:21.6px;}Department of Ophthalmology

Medical University of Warsaw

Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

Erratum: Motion-Acuity Test for Visual Field Acuity Measurement with Motion-Defined Shapes

Department of Ophthalmology