No abstract

Both I-Care and Tono-Pen tonometers overestimated IOP compared with the GAT values. Either the I-Care or Tono-Pen tonometer could be used instead of GAT because there was no significant difference between their results. Higher CCT values (>555 µm) were associated with overestimated IOP values.

Purpose To describe the phenotype‐genotype correlation of three X‐linked retinoschisis (XLRS) cases in juveniles with different novel mutations from Lithuanian population. Methods Based on clinical symptoms and family history, a preliminary diagnosis of XLRS was established in three adolescent male patients. Comprehensive ophthalmological examinations, including best‐corrected visual acuity (BCVA), slit‐lamp, fundus examination, spectral domain optical coherent tomography (SD‐OCT) and full‐field electroretinography, were performed. RS1 (NM_000330.3) gene coding exons Sanger sequencing was performed. Results At the time of ophtalmic and genetic counselling the patients were 9, 12 and 17 years old. The patients demonstrated macular retinoschisis and typical cyst‐like cavities on SD‐OCT images with logMAR BCVA ranging from 0.5 to 0.2. The mean central foveal thickness was 569.7 μm. Two of the three patients presented with peripheral retinoschisis. Flash‐ERG demonstrated a reduced b/a ratio (<1.0) in all patients. RS1 c.599G>T (p.R200L) mutation was detected in one case, in silico analysis showing to be pathogenic. HGMD involves three other different mutations at the same position supporting the pathogenicity of the identified variant. c.(92_97)insC (p.W33 fs) mutation was identified for another proband, in silico analysis indicating the variant is possibly damaging. The third case was identified with a pathogenic mutation c.422C>G (p.R141H), HGMD CM981753. Conclusions These are the first cases of XLRS in the Lithuanian population confirmed by molecular genotyping. Although clinical expression of XLRS is highly variable presented patients had a different genotype but similar phenotypic traits. Functional analysis would be of benefit to characterise the identified variants on the effect of retinoschisin expression.

No abstract

PurposeTo evaluate the retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in Lithuanian patients with multiple sclerosis (MS) and to assess the relationship between RNFL thickness and visual evoked potentials (VEP).MethodsFrom 2013 till 2014 a prospective study involving 71 patients with multiple sclerosis was conducted in Vilnius University Hospital Santariškių Clinic Center of Neuroscience and Eye Diseases. The epidemiological, clinical, laboratory and instrumental data was assessed: gender, age, oligoclonal bands, IgG index in cerebrospinal fluid (CRF), visual evoked potentials (VEP), OCT. RNFL and papilomacular bundel (PMB) thicknesses were performed with SD‐OCT.ResultsThe distribution of gender for patients with MS was as follows: men n = 22 (31%), women n = 49 (69%); average age −40.7 ± 10.7 years. OCT results were as follows: RNFL average thickness: right eye 85.5 ± 15.6 μm, left eye 86.3 ± 13.2 μm. According to the t‐test: the upper nasal (NS) segment averages of right and left eyes differed statistically significant −6.6 ± 14.7 μm (p < 0.05). There was significant negative correlation between VEP P100 latency and RNFL thickness of the right eye TI segment (r = −0.57; p = 0.01) and the left eye PMB segment (r = −0.52; p = 0.02). The most damaged segment was the temporal (T) one: right eye 84.5% (n = 60), left eye −90.1% (n = 64). RNFL of both eyes revealed statistically significant mean differences with the IgG index.ConclusionsThe most vulnerable segment of the retina is the temporal. If VEP gets prolonged thinning of RNFL is also observed. The CSF index is increased by immunologically more active multiple sclerosis. We think that more active form of MS may be associated with retinal segments violation. Hence we may conclude that RNFL thinning could be related with irreversible progression of the disease.