Syndromic Retinitis Pigmentosa: A Narrative Review.

Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.

We present here the case histories of two siblings, a boy and a girl, with Leber's congenital amaurosis (LCA). The diagnosis was based on non-recordable full-field electroretinogram (ffERG). The long-term ophthalmologic follow-up included kinetic perimetry (Goldmann), visual evoked potentials with flash stimulation, optical coherence tomography (OCT: B-scan images at the area of fovea), and multifocal ERG.

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.

Background: Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis.

Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment.

This is a case history of a 23-year-old woman suffering from incontinentia pigmenti (IP). The patient's vision in the left eye started to deteriorate due to cataract progression at the age of 22, and by the age of 23, it dropped from 0.9 to 0.

VEP and PERG in patients with multiple sclerosis, with and without a history of optic neuritis.

Purpose: Visual electrophysiology is routinely used to detect the visual complications of multiple sclerosis, but the analysis mostly focuses on visual evoked potential (VEP) and especially the P100 component. Our goal was to analyze the components and waveform alterations of VEPs and pattern electroretinograms (PERGs) in patients with multiple sclerosis (MS) with good vision.

Methods: The main VEP and PERG components of 85 patients with MS were analyzed in two groups: 38 patients who had optic neuritis in their history (ON group) and 47 patients who had never had optic neuritis (MS group).

Postnatal outcome and placental blood flow after plasmapheresis during pregnancy.

Purpose: Plasmapheresis in pregnancy adversely affects maternal hemodynamics, however there are studies suggesting it to reduce pregnancy loss in immunological diseases when medication is more harmful to the fetus. The overall optimal plasmapheresis treatment protocol remains unknown.

Materials And Methods: A pregnant with neuromyelitis optica was followed up after receiving six volumes of fresh frozen plasma via plasmapheresis.

The Development and Aging of the Magnocellular and Parvocellular Visual Pathways as Indicated by VEP Recordings between 5 and 84 Years of Age.

It is well known that pattern reversal visual evoked potentials (VEPs) are age-sensitive. Through the use of this technique, it is possible to assess both of the major visual pathways (i.e.

Lyme disease associated neuroretinitis - Case report.

We describe a rare case of Lyme disease complicated by unilateral neuroretinitis in the right eye. We report a case of a 27-year-old woman with blurred vision on her right eye. Because of the suspicion of optic neuritis (multiplex sclerosis) neurological examination was ordered.

Further Evidence for the Utility of Electrophysiological Methods for the Detection of Subclinical Stage Retinal and Optic Nerve Involvement in Diabetes.

Objective: To assess the utility of visual electrophysiological methods, visual evoked potentials (VEPs) and pattern electroretinograms (PERGs) were recorded for the detection of subclinical optic nerve and retinal involvement in patients with diabetes mellitus.

Subjects And Methods: The data of 63 patients (126 eyes) with no vascular retinopathy or optic neuropathy were retrospectively analyzed. The patients were divided into polyneuropathic/nonpolyneuropathic groups to differentiate between early and late subclinical stages.

Interocular amplitude and latency differences of pattern ERG and pattern VEP parameters.

Purpose: To determine the normal interocular differences in amplitudes and peak times of the pattern electroretinograms (PERGs) and pattern visual evoked potentials (PVEPs) and to investigate whether the PERG and PVEP parameters correspond in lateral dominance or whether the eye-side distributions of the functional parameters are similar.

Methods: The PERGs and PVEPs were recorded in healthy subjects (N = 77) according to the standards of the International Society for Clinical Electrophysiology of Vision, with the modification of the check size of the PERG to 0.5 degrees.

[Ophthalmologic manifestations of Bardet-Biedl syndrome].

Introduction: Bardet-Biedl syndrome is characterised by retinal dystrophy, polydactily, obesity and slow mental development.

Aim: The aim of the authors was to present ophthalmologic signs and symptoms of the syndrome.

Method: Between 1980 and 2010, 4 children with Bardet-Biedl syndrome were evaluated at the Department of Ophthalmology, University of Szeged, Szeged, Hungary.

Achromatic luminance contrast sensitivity in X-linked color-deficient observers: an addition to the debate.

It is a matter of debate whether X-linked dichromacy is accompanied by enhanced achromatic processing. In the present study, we used sinusoidally modulated achromatic gratings under photopic conditions to compare the contrast sensitivity (CS) of protanopes, deuteranopes, and normal trichromats. 36 male volunteers were examined.

Interocular amplitude differences of multifocal electroretinograms obtained under monocular and binocular stimulation conditions.

Purpose: To compare the interocular amplitude differences of the multifocal electroretinograms (mfERGs) evoked by either monocular or binocular stimulation in healthy subjects with good vision.

Methods: Thirty-five subjects were included in the study. A Roland Consult RETIscan system was used.

Parallel development of contour integration and visual contrast sensitivity at low spatial frequencies.

It has been suggested that visual contrast sensitivity and contour integration functions exhibit a late maturation during adolescence. However, the relationship between these functions has not been investigated. The aim of this study was to assess the development of visual contrast sensitivity and contour integration in 152 healthy volunteers aged between 5 and 30 years.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Purpose: To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease.

Methods: This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography (OCT) and full-field and multifocal electroretinography (ERG), were performed on 20 affected males, 13 female carriers, and 27 healthy controls.

Pattern-reversal electroretinograms and visual evoked potentials in retinitis pigmentosa.

Objective: To analyze pattern electroretinograms (PERGs) and pattern visual evoked potentials (PVEPs) in retinitis pigmentosa (RP) patients.

Methods: PERGs and PVEPs were recorded in 106 eyes of 53 RP patients. A RETIport system was used for stimulation and recording.

Lateral interactions and speed of information processing in highly functioning multiple sclerosis patients.

Visual impairment is a common feature of multiple sclerosis. The aim of this study was to investigate lateral interactions in the visual cortex of highly functioning patients with multiple sclerosis and to compare that with basic visual and neuropsychologic functions. Twenty-two young, visually unimpaired multiple sclerosis patients with minimal symptoms (Expanded Disability Status Scale <2) and 30 healthy controls subjects participated in the study.

Hypobaric hypoxia reduces the amplitude of oscillatory potentials in the human ERG.

Purpose: To explore the retinal functions in healthy volunteers during acute hypoxic exposure, applying a set of electrophysiological tests.

Methods: Standard electroretinograms (ERGs) of the retina (rod-(scotopic) ERGs, cone-(photopic) ERGs, maximal responses and oscillatory potentials (OPs)) and 30-Hz flicker ERGs were recorded according to ISCEV (International Society of Clinical Electrophysiology of Vision) recommendations in 14 healthy volunteers during a 15-min exposure to a simulated altitude of 5500 m.

Results: The mean arterial oxygen saturation level was significantly reduced (P < 0.

Multifocal ERG reveals several patterns of cone degeneration in retinitis pigmentosa with concentric narrowing of the visual field.

Purpose: To analyze multifocal ERGs (mfERGs) in patients with retinitis pigmentosa (RP), with constricted visual fields and visual acuity satisfactory for steady fixation.

Methods: The mfERGs of 86 eyes of 43 patients with various forms of inheritance and durations of RP were analyzed. A retinal scanning system with a 20-in.

[Parallel processing of visual information].

This is a survey on the function of parallel visual pathway with a special emphasis on its clinical implications. It is based on data in the literature and own results of our group. The paper primarily deals with the X, Y, W pathways and by the magnocellular, parvocellular and koniocellular visual pathways characterized by cells of various size as well as by nerve fibers of various thickness.

Electrophysiological findings in patients with nonarteritic anterior ischemic optic neuropathy.

Objective: Nonarteritic ischemic optic neuropathy (NAION) is one of the most frequent causes of sudden visual loss in middle-aged or elderly patients. Although several electrophysiological methods are available for an objective evaluation of the visual deficits, these are not generally used in the assessment of the clinical condition of NAION patients. To evaluate the severity of the optic nerve and retinal damage, electrophysiological tests were performed on 8 patients with NAION.