Kamil Szulborski

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

Summary Background 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. Material/Methods We retrospectively analyzed of 297 patients who underwent phacoemulsification and AcrySof SA60AT implantation. In a first group of 97 patients, 53 received small capsulorhexis (3.9 to 4.9 mm in diameter) and 44 patients received large capsulorhexis (5.0 to 5.9 mm in diameter). Another group of 99 patients was split into subgroups – 66 patients whose capsulorhexis were centrally located and 33 patients whose capsulorhexis were paracentral. A third group of 101 patients was split into subgroups – a subgroup of 59 patients were classified as having a regularly rimmed capsulorhexis and a subgroup of 42 patients as having an irregularly rimmed capsulorhexis. At 6 months follow-up, PCO was classified as none, mild, moderate, or severe, depending on the number of quadrants involved. Results 86.79% of the patients with a small capsulorhexis had no or mild PCO (p<0.001), whereas, 68.18% of the patients with a large capsulorhexis experienced moderate or severe PCO; 89.4% of the patients with a central capsulorhexis had no or mild PCO (p<0.001), whereas, 75.75% of the patients with a paracentral capsulorhexis had moderate or severe PCO; 86.44% of the patients with a regularly rimmed anterior capsulorhexis had no or mild PCO (p<0.001); and 69.04% of the patients with an irregular capsulorhexis rim had moderate or severe PCO. Conclusions A small capsulorhexis diameter, its central localization and regular shape result in less PCO following phacoemulsification.

Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome

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.

Late onset cone dystrophy

Cone dystrophies are a hereditary, progressive and heterogeneous group of retinal diseases with cone system degeneration. They lead to reduced visual acuity, colour vision impairment and photophobia. Full-field electroretinogram (ERG) reveals severe cone function impairment, with normal rod responses or slightly depressed in advanced stages in some cases. The purpose of the study was to present a case of late onset cone dystrophy in 47-year-old male and the proper diagnostic procedure. A 47-year-old patient presented with progressive visual loss for several years and mild photophobia, which he observed recently. The patient underwent fundus photography, fluorescein angiography, colour vision testing, Goldmann visual field testing, full-field electroretinogram (ERG) and multifocal electroretinogram (mfERG). Symptoms and signs of late onset cone dystrophy may be unclear and establishing the proper diagnosis may be difficult in these cases. Patients may be misdiagnosed as having other diseases, especially in case of absence or subtle changes in the macula. The electrophysiological testing is essential in these cases, and ERG is the most useful clinical test in early and differential diagnosis of retinal dystrophies.

Visual evoked potentials in early diagnosis of demyelinating diseases--a case report of Devic's disease.

Summary Background Devic’s disease, also known as neuromyelinitis optica (NMO), is a severe, rare demyelinating disorder, previously considered to be a form of multiple sclerosis (MS). The aim of this study was to present the case report of 21-year-old woman with a very early diagnosis of Devic’s disease, established following electrophysiological testing. Case Report A 21-year-old woman was referred to Warsaw Medical University, Department of Ophthalmology, with subjective visual impairment. The patient underwent a full clinical examination, colour vision and Goldmann visual field testing, fluorescein angiography, OCT, multifocal ERG, and visual evoked potentials (VEPs). Conclusions Visual evoked potentials are a very useful diagnostic tool in optic nerve neuropathies. In our patient, the electrophysiological testing allowed us to establish a proper diagnosis very early, before typical clinical signs of Devic’s disease.

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

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.

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

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.