X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.

The aim of the study is to present an atypical case of late-onset X-linked retinoschisis. We present a case of a 37 year-old male patient with a few months' history of visual impairment. A clinical exam with optical coherence tomography and flash electroretinography (flash-ERG) was performed and the patient was diagnosed with X-linked retinoschisis. Genetic testing of the patient's family confirmed the disease and p.Arg197Cys mutation of RS1 gene was identified. In conclusion, optical coherence tomography and flash electroretinography enabled a proper diagnosis of X-linked retinoschisis in a patient with symptoms manifesting in the fourth decade of life. Genetic testing revealed male sufferers and female carriers among his family members.

A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

Wolfram syndrome (WFS), or DIDMOAD, is a rare (1/100 000 to 1/770 000), progressive neurodegenerative disorder. In its early stages, it is characterized by insulin-dependent diabetes mellitus, optic atrophy and loss of sensorineural hearing-this is followed by diabetes insipidus, progressive neurological abnormalities and other endocrine abnormalities, which occur in later years. The aim of this study was to report on the clinical and electrophysiological findings from a family with the WFS1 mutation. The five family members were subjected to a complete ophthalmic examination, which included a flash full-field electroretinogram and pattern-reversal visual evoked potentials (PVEPs) performed according to ISCEV standards. Optic atrophy was confirmed in two homozygotic patients, where P100 latencies were significantly delayed-up to 146 ms in PVEP. P100 latencies were normal in the three heterozygotic patients we examined. Curve morphology abnormalities were observed in all five patients we examined. No literature describing the morphology of PVEP in Wolfram syndrome patients was found. In flash electroretinography, scotopic and photopic responses appeared in normal morphology and value. Diabetic retinopathy was not observed in the diabetes mellitus patients.

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

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.

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

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.

The complications during phacoemulsification in patients with posterior polar cataract.

PURPOSE: 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. MATERIAL AND METHODS: The retrospective evaluation of complications during phacoemulsification of a posterior polar cataract in patients in the Department of Ophthalmology, Medical University of Warsaw from January 2001 to June 2007. The surgical procedures, as well as the implanted IOL type and intraoperative and postoperative complications were evaluated in every case in 2 years' observations. Best-corrected visual acuity before and 3 months after surgery was evaluated using the standard Snellen chart. RESULTS: The study group consisted of 16 individuals, 6 women and 10 men in age 21-55 (mean 32.7). 22 eyes were operated on, all using the phacoemulsification method through corneal incision (10 individuals--1 eye, 6 individuals--both eyes). In all cases, phacoemulsification was performed using a hydrodissection free technique by corneal incision. A posterior capsule rupture was observed in 4 eyes (18%), localized in the central region and caused by changes in the capsula. The mean visual acuity was significantly better after cataract surgery. The best corrected visual acuity (BCVA) was 6/6 in 8 eyes (36%). A BCVA of less than 1.0 was caused by either amblyopia or nystagmus. CONCLUSIONS: Phacoemulsification in patients with posterior polar cataract is associated with a high risk of posterior capsule rupture and potential vitreous loss, which is why this procedure should be performed carefully by senior surgeons using an appropriate, hydrodissection free technique.

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.

Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease.

PURPOSE: Kayser-Fleischer ring pathognomonic for Wilson disease (WD) is formed of corneal copper deposits present predominantly within the anterior chamber angle at the Schwalbe's line. The slit-lamp assessment commonly used as a standard of care cannot detect them early enough, as the angle view is obscured by the corneal limbus. The aim of the research was to evaluate the anterior segment optical coherence tomography (AS-OCT), as objective diagnostic assessment of copper deposits forming KF ring in patients with WD. METHODS: Twenty-nine subjects (17 women) and twenty-nine controls (14 women) were enrolled and underwent slit lamp and AS-OCT assessment. RESULTS: Kayser-Fleischer ring was not detected - either with a slit lamp or with AS-OCT - in any of the controls. Fifteen subjects presenting without KF ring at a slit-lamp examination were found to have a KF ring when examined with AS-OCT (p < 0.001), which confirms improved accuracy of AS-OCT, as compared to the slit-lamp examination. CONCLUSION: Our results support AS-OCT as a diagnostic procedure to offer better objectivity and accuracy as compared to a slit-lamp examination, both at the diagnostic stage and when monitoring changes in KF ring during medical therapy to assess its efficacy and patient compliance.

[Comparison of postoperative refractive outcome in phacotrabeculectomy and phacoemulsification]. / Porównanie wartosci refrakcji pooperacyjnej w stosunku do oczekiwanej u pacjentów poddanych zabiegom fakotrabekulektomii i fakoemulsyfikacji.

PURPOSE: The aim of this study is to compare the postoperative refractive oucomes following phacotrabeculectomy and phacoemulsification with posterior chamber intraocular lens implantation. MATERIALS AND METHODS: The study involved the patients who underwent surgical pocedures: phacotrabeculectomy and phacoemulsification with posterior chamber intraocular lens implantation in Department of Ophthalmology Medical University of Warsaw since June 2005 to June 2006. A retrospective randomised review of postoperative refractive outcomes of 126 eyes (110 patients): 52 eyes (49 patients) that underwent phacotrabeculectomy and 74 eyes (61 patients) that underwent phacoemulsification in the same time was done. Sex and mean age was simillar in both groups of patients. We analysed the difference between preoperative predicted refractive outcome and the actual postoperative refraction. All surgery procedures were performed by two qualified optical surgeons and biometry measurements were performed by two qualified doctors. RESULTS AND CONCLUSIONS: No significant difference was found between predicted errors following phacotrabeculectomy and phacoemulsification.