Novel Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Variants of the gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of Four adult patients presented either COD or CORD with onset in the late teenage years.

Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report.

Background: Pathologic myopia is a major cause of visual impairment and blindness.

Case Presentation: We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye.

A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line.

Purpose: We intend to describe an uncommon presentation of X-linked juvenile retinoschisis (XLRS) in a 17-year-old boy showing a macular demarcation line in the right eye and an inferior peripheral bullous retinoschisis in both right and left eye, at his first ophthalmologic examination.

Methods: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity assessment, anterior segment and dilated fundus examination, ultra-wide-field retinography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, electroretinography, visual field test, and genetic molecular testing.

Results: We report a rare case of genetically confirmed XLRS, presenting as a unilateral mildly-pigmented macular demarcation line (advanced sequel of unilateral spontaneous retinal reattachment of a previous retinal detachment or bullous retinoschisis) without foveoschisis in the fellow eye.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few years, with the occurrence of whole-exome sequencing (WES) or whole-genome sequencing (WGS), the molecular diagnosis rate has been improved by allowing the screening of more than 80 genes at one time. In CMT, except the recurrent PMP22 duplication accounting for about 60% of pathogenic variations, pathogenic copy number variations (CNVs) are rarely reported and only a few studies screening specifically CNVs have been performed.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Purpose: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy.

Fundus autofluorescence in retinal artery occlusion: A more precise diagnosis.

Importance: Retinal artery occlusion (RAO) is a medical emergency associated with a high risk of cerebral vascular accident and other cardiovascular events. Among patients with non-arteritic RAO, a retinal embolus is observed in approximately 40% of cases. Fundus examination and retinography are not reliable to predict the nature of the emboli.

Retrospective Time Perception in Korsakoff's Syndrome.

The authors investigated retrospective timing in participants with Korsakoff's syndrome. Patients were assessed on four retrospective tasks on which they were instructed to read three-digit numbers aloud (15 seconds), fill connected squares (30 seconds), decide whether words were abstract or concrete (45 seconds), or read aloud a text about mushroom picking (60 seconds). Participants were not aware of the task's timing until the end of the tasks, when they were asked to estimate the elapsed time.

Destination Memory in Korsakoff's Syndrome.

Background: Context memory, or the ability to remember the context in which an episodic event has occurred (e.g., where and when an event took place), has been found to be compromised in Korsakoff's syndrome.

[Temporary recommendation for use on off-label baclofen: viewpoint of Prescribers of the CAMTEA system].

The use of high dose baclofen for alcohol-dependence emerged in France from 2008 based on empirical findings, and is still off-label. However, due to the rapid increase in this prescribing practice, the French health authorities have decided to frame it using an extraordinary regulatory measure named "temporary recommendation for use" (TRU). Baclofen prescribers from CAMTEA, a regional team-based off-label system for supervising baclofen prescribing, which was developed much prior to the TRU, discuss herein the pros and cons of this measure and the applicability of its different aspects in the daily clinical practice.