Márta Janáky
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View article: Syndromic Retinitis Pigmentosa: A Narrative Review
Syndromic Retinitis Pigmentosa: A Narrative Review Open
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 ot…
View article: Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation
Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation Open
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 …
View article: Supplementary Material for: Long-term follow-up of a family with retinal dystrophy caused by RPE65 mutation
Supplementary Material for: Long-term follow-up of a family with retinal dystrophy caused by RPE65 mutation Open
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…
View article: Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family Open
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. Despit…
View article: Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family Open
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. Despi…
View article: Retinal and optic nerve functions in incontinentia pigmenti: long-term elctrophysiological follow-up
Retinal and optic nerve functions in incontinentia pigmenti: long-term elctrophysiological follow-up Open
Incontinentia pigmenti (IP) is a rare, X-linked, dominantly inherited disease affecting mostly females, which is best characterized as an autoimmune disease. It is a multisystem disorder affecting ectodermal tissues. Ocular abnormalities u…
View article: Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family Open
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. Despi…
View article: Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma
Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma Open
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. Despi…
View article: Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment
Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment Open
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 t…
View article: Clinical Cases: Pericardial disease39Diagnostic difficulties of a vasculitis caused by uncommon cardiovascular manifestation40Pericardial mass in a post-surgery mitral endocarditis patient41Focal constrictive pericarditis: multimodality imaging
Clinical Cases: Pericardial disease39Diagnostic difficulties of a vasculitis caused by uncommon cardiovascular manifestation40Pericardial mass in a post-surgery mitral endocarditis patient41Focal constrictive pericarditis: multimodality imaging Open
# 39 Diagnostic difficulties of a vasculitis caused by uncommon cardiovascular manifestation {#article-title-2}
Although pericardial effusion is a common finding in the echocardiographic laboratory, in many of the cases the etiology rem…
View article: The Development and Aging of the Magnocellular and Parvocellular Visual Pathways as Indicated by VEP Recordings between 5 and 84 Years of Age
The Development and Aging of the Magnocellular and Parvocellular Visual Pathways as Indicated by VEP Recordings between 5 and 84 Years of Age Open
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., the magnocellular and parvocellular ones) in ter…
View article: EP23.01: Postive postnatal outcome in pregnancy with neuromyelitis optica
EP23.01: Postive postnatal outcome in pregnancy with neuromyelitis optica Open
Neuromyelitis Optica/Devic's syndrome is more prevalent in women with median age of onset 35–45 years. Population based studies report the prevalence of 0.5-4.4/ 100 000, mainly sporadic. We investigated the case of a 25 year old nulliparo…
View article: Lyme disease associated neuroretinitis — Case report
Lyme disease associated neuroretinitis — Case report Open
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 sclerosi…
View article: Further Evidence for the Utility of Electrophysiological Methods for the Detection of Subclinical Stage Retinal and Optic Nerve Involvement in Diabetes
Further Evidence for the Utility of Electrophysiological Methods for the Detection of Subclinical Stage Retinal and Optic Nerve Involvement in Diabetes Open
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 …
View article: P03.03: The pregnancy and postnatal outcome in neuromyelitis optica: case study
P03.03: The pregnancy and postnatal outcome in neuromyelitis optica: case study Open
Conclusions: Our outcomes suggest that fetal loss and preterm birth as well as chromosomal anomalies increase gradually with NT thickness.P02.