[Importance of family examination in juvenile X-linked retinoschisis]. / Die Bedeutung der Familienuntersuchung bei der juvenilen Retinoschisis.

BACKGROUND: Congenital (juvenile) retinoschisis belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in an X-linked recessive pattern and its onset usually occurs in 5- to 10-year-old boys. Presenting clinical signs include decreased visual acuity due to maculopathy. CASE REPORT: The authors present a case of a 17-year-old boy with decreased visual acuity, hypermetropia, and bilateral retinoschisis with maculopathy upon fundus examination. In view of a 50% risk of the disorder occurring in the brothers of the affected male, they underwent full ophthalmological and electrophysiological examinations (until then asymptomatic). In one of them decreased visual acuity, mixed astigmatism, and maculopathy were present, without any changes of the peripheral retina. In the youngest brother decreased visual acuity, hypermetropia, and maculopathy were diagnosed. CONCLUSIONS: Genetic counseling and ophthalmological examination of family members at risk facilitated early recognition of the pathological changes in the siblings. Genetic counseling with pedigree analysis and genetic analysis, if possible, should be offered to all affected patients and family members.

[The usefulness of visual evoked potentials for the evaluation of visual pathways in children and adolescents with selected neuro-ophthalmological syndromes. (Summary of the doctor of medicine degree dissertation)]. / Przydatnosc wzrokowych potencjalów wywolanych w ocenie uszkodzen drogi wzrokowej u dzieci i mlodziezy w wybranych zespolach neurookulistycznych. (Streszczenie rozprawy na stopien doktora nauk medycznych).

OBJECTIVES: Much study and care have been devoted to evaluated lesions of the visual pathway in children and adolescents with different neuroophthalmological disorders. The aim of the study was to determine the usefulness of visual evoked potentials (VEP) for evaluation of visual pathway in young patients with cerebral palsy, sclerosis multiplex and subacute sclerosing panencephalitis. MATERIAL AND METHODS: During the research 63 healthy children and 78 pathological ones, between 5 and 18 years of age, were studied. First ophthalmological examination was performed and next VEPs were recorded. For poorly cooperative children, a flash on TV screen was used as a stimulus, and for normal mental children a pattern-reversal black and white checkboard was used. The comparison of VEP in normal healthy subjects and pathological ones was the last part of the investigation to evaluate visual system of patients. RESULTS: In all groups of patients, both with visual complains and without them, pathological results of VEP were found. The pathology of VEP were connected with shape, amplitudes and latencies of the peaks N75, P100, N145. CONCLUSIONS: The VEP is a good and objective method of diagnosis in neuroophthalmological patients, which supplies extra information about lesions of visual pathway. It allows to detect subclinical lesions. It is a noninvasive and painless diagnostical method and it can be repeated a few times in various periods of illness and even in poorly cooperative patients.

[Hypertrophy of retinal pigment epithelium--epidemiology, clinical characteristics and differential diagnosis]. / Przerost nablonka barwnikowego siatkówki--wystepowanie, obraz kliniczny i róznicowanie.

The aim of the study is to show the clinical features of hypertrophy of the retinal pigment epithelium. The authors have studied five own cases (all women, mean age 42 years). All patients had a complete ophthalmological examination including fluorescein angiography (the follow-up time was 6 to 12 months). They also had general medical examination to find the possible association with intestinal polyposis with probable malignant transformation (Gardner's syndrome). Although hypertrophy of the retinal pigment epithelium is so far a benign lesion, the patients should be checked up every year. All hyperpigmented lesions of the ocular fundus are serious for clinicians because of the suspicion of their malignancies.

[Bilateral neuropathy of the optic nerve as a complication of mumps]. / Obustronna neuropatia nerwu wzrokowego jako powiklanie przebytego nagminnego zapalenia przyusznic.

Mumps belongs to children viral diseases. However, it rather seldom has general complications, either of internal organs or of the central nervous system. The authors present a case of a 10-year-old girl who two weeks after an uncomplicated mumps had bilateral optic nerve neuropathy. Her visual acuity was low and visual fields were constricted. The symptoms disappeared after 8 days without any treatment. But because of a possibility of optic neuritis the girl was treated with oral steroids. She is still observed in our clinic and still shows pathological changes in static computer perimetry.

[Etiopathogenesis and treatment of glaucoma in Sturge-Weber syndrome]. / Etiopatogeneza i leczenie jaskry w zespole Sturge-Webera.

The theories that attempt to explain etiopathogenesis of glaucoma in Sturge-Weber syndrome are presented. The assumptions for treatment of this kind of glaucoma have been explained on the grounds of literature and 2 observed cases (one with bilateral location). The best results are obtained with pharmacological treatment. Surgical procedures may result in many intraoperative and postoperative complications.

[Diagnosis and surgical treatment of idiopathic macular holes]. / Diagnostyka i leczenie chirurgiczne idiopatycznych otworów plamki.

AIM: Evaluation of diagnostical methods and pars plana vitrectomy (ppv) in surgical treatment of idiopathic macular holes. MATERIAL AND METHODS: Group of 16 patients, 15 women and 1 man, aged between 48 and 78 years, mean age 63 years. The surgical treatment--ppv were performed in all patients with macular holes stage II-IV. In all patients the following examinations were performed: distant and near visual acuity, ophthalmoscopy in Volk 60 lens, Amsler test, colour vision test with anomaloscope IF2, ultrasonic evaluation of vitreous chamber and particularly of premacular region, and electrophysiological tests-visual evoked potentials (VEP) and electroretinography (ERG). 12 patients were treated by ppv with exchange fluid-gas SF6, and in 4 patients extra adjuvant--own patient's serum was injected after earlier exchange fluid-air-gas SF6. RESULTS: In 80% of cases there was an improvement of vision observed by patients, improvement of near visual acuity and reduction of metamorphopsia in Amsler test. In USG examination the reduction of macular thickening, lack of operculum and presence of complete posterior vitreous detachment in the region of macula were observed after surgery. In electrophysiological investigations there was the improvement of VEP parameters using 1/4 visual field as a stimulus. In 1 case treated with adjuvants, there was endophtalmitis with secondary retinal detachment after ppv. CONCLUSIONS: Ppv in nearly all cases gave good results for patients--improvement of visual comfort and reduction of central defect of vision. It also gave good surgical--anatomical results. Using of adjuvant--own patient's serum, did not improve in particular way the functional and anatomical results of surgery.

[Possible advantages of visual evoked potentials and computerized static perimetry in early diagnosis of glaucoma]. / Mozliwosci wykorzystania badan wywolanych potencjalów wzrokowych i komputerowej perymetrii statycznej we wczesnej diagnostyce jaskry.

Aim of the studies was to evaluate usefulness of the visual evoked potentials and static perimetry in diagnosis of an early glaucoma. There were 12 examined cases, divided into 3 equal groups: 1) patients suspected for glaucoma basing on the characteristic picture of the optic disc, 2) patients after acute glaucoma in one eye with no history of the disease in the fellow eye, 3) patients with open angle glaucoma diagnosed in one eye. Abnormal results of the examinations were found only in the second group. The authors concluded that visual evoked potentials and static perimetry could be helpful in proper diagnosis of many difficult cases suspected for glaucoma.

[The diagnosis of psychogenic visual problems in children and young adults with application of visual evoked responses (VER)]. / Diagnostyka psychogennych zaburzen widzenia u dzieci i mlodziezy z wykorzystaniem wzrokowych potencjalów wywolanych.

PURPOSE: To present diagnostical and therapeutical problems connected with children and adolescents suspected of aggravation or simulation of visual problems. MATERIAL: 5 patients between 10 and 13 years old with visual disturbances sent to ophthalmologist with suspicion of neuritis retrobulbaris or tumor cerebri. METHODS: Complexive diagnostical investigations (including visual field tests, color vision tests, visual evoked potentials) with complete ophthalmological examinations of visual organ and psychological evaluation of patients. RESULTS: The normal results of ophthalmological examinations and of all diagnostical investigations including visual evoked potentials. Psychological evaluation of patients showed psychological troubles of the young ones. CONCLUSIONS: The normal results of visual evoked potentials confirm the diagnosis of psychogenic visual disturbances and allow to save children before other medical invasive investigations. Such patients with psychogenic visual disturbances and their families usually need a special kind of psychogenic therapy.

[The role of complex diagnostic examination in von Hippel-Lindau disease]. / Znaczenie kompleksowych badan diagnostycznych w chorobie von Hippel-Lindau.

Von Hippel-Lindau disease belongs to phakomatosis. It is a dominantly autosomally inherited disease. The aim of the study was to present and evaluate different methods of diagnostic examinations (computer tomography, magnetic resonance imaging and ultrasonography) in 14 patients with the disease. The results of investigations showed a wide variety of visceral manifestations. All the patients are carefully followed up. Control examinations every six months allow to check for and treat any new pathological changes in the retina.

[Diagnostic studies of optic neuritis in children and adolescents]. / Badania diagnostyczne w zapaleniach nerwu wzrokowego u dzieci i mlodziezy.

PURPOSE: To evaluate the sensitivity of various diagnostic methods in the optic neuritis. MATERIAL AND METHODS: 15 patients, 10 boys and 5 girls, aged 6-18 years, with optic neuritis have been examined. Multiple sclerosis was diagnosed in 12 cases, the etiology of 3 was unknown. The full ophthalmological examination, including static perimetry and visual evoked potentials (VEP) as well as brain computed tomography (CT) and magnetic resonance imaging (MRI) were performed. RESULTS: MRI revealed plaques of demyelination in 11 patients; no pathological changes were observed in cases of idiopathic neuritis. In CT plaques of demyelination were found in 2 patients only. In most cases VEPs were abnormal, mainly there was prolonged latency of deflection, decreased amplitude and more rarely changes of the shape of the record. Static perimetry, with white and blue target, revealed multiple scattered absolute and relative scotoma in the 30 degrees central area. CONCLUSIONS: MRI and static perimetry were the most sensitive methods for detection of the changes in optic neuritis and these methods are also useful in cases with asymptomatic involvement of visual pathway, especially in multiple sclerosis.

[OCT and PVEP examination in eyes with visible idiopathic optic disc drusen]. / Nachweis einer Neuropathie bei Drusen der Papille mittels der visuell evozierten Potenziale (VEP) und optischen Kohärenztomographie (OCT).

OBJECTIVES: It has been reported that the presence of optic disc drusen is mostly not associated with a reduction in function of the visual organ. At present by using more precise diagnostic tools it is possible to find more pathology. The aim of the study was to evaluate changes in peripapillar RNFL thickness and VEP parameters in a group of patients at the Department of Ophthalmology in Poznan, with diagnosed visible idiopathic optic disc drusen. MATERIALS AND METHODS: We have reviewed the medical records of 7 patients (5 women and 2 men) age range 43 - 61 years, mean age 51 years, with idiopathic visible optic disc drusen confirmed by ultrasound B scan. RNFL were measured with use of an OCT system (Stratus, Zeiss): fast RNFL thickness = 3.4. VEP were evaluated with use of a 60 pattern. RESULTS: In all patients OCT has shown a thinnig of peripapillar retinal nerve fiber layer. The lowest values were found in the superior and inferior quadrants. In 9 eyes we recorded VEPs with prolonged latency P100 from 117.2 - 135.8 msec, with a small reduction of the P100 amplitude. CONCLUSIONS: Idiopathic visible optic disc drusen are associated with changes in peripapillar RNFL thickness, especially in the superior and inferior quadrants. The anatomic pathology is related to functional abnormalities as confirmed with VEP. Detection of this type of drusen should be an indication to search for possible RNFL and VEP pathologies and to monitor their possible progression.