Crocodile Skin Retinal Appearance: Miliary Distribution of Bilateral Idiopathic Multifocal Retinal Pigment Epithelial Detachments.

This report presents cases of an unusual appearance of bilateral idiopathic multifocal retinal pigment epithelial detachments (PEDs) in three patients, using multimodal imaging. Three patients with multiple PEDs, initially diagnosed as drusen, were referred for evaluation. They underwent comprehensive ophthalmic examination and multimodal imaging.

Eyetracking-enhanced VEP for nystagmus.

Visual evoked potentials (VEPs) are an important prognostic indicator of visual ability in patients with nystagmus. However, VEP testing requires stable fixation, which is impossible with nystagmus. Fixation instability reduces VEP amplitude, and VEP reliability is therefore low in this important patient group.

Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients.

Background: Electroretinograms (ERG) are necessary for the evaluation of retinal function, however testing children is challenging and only performed at a few specialised centres. The handheld RETeval ERG instrument could prove a valuable tool for clinicians in assessing retinal function. This study evaluates this device using an ISCEV approved modified paediatric protocol and compares it to standard methods using a photic stimulator.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated patients with nystagmus underwent routine ocular phenotyping using commonly available phenotyping methods and were grouped into four sub-cohorts according to the level of phenotyping information gained and their findings. DNA was extracted and sequenced using a broad utility next generation sequencing (NGS) gene panel.

Long term follow-up of a family with dominant cone dystrophy.

Aim: To describe long term follow-up in a family with dominant cone dystrophy.

Methods: Optical coherence tomography scans and fundus autofluorescence images were obtained. Flash and pattern electroretinograms (ERGs) and occipital pattern reversal visual evoked potentials were recorded.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes. OCA1 is the most common cause of albinism in European populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene.

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.

Background: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. Cystoid macular oedema (CMO) is a rare feature of CORD and has not been described in CORD7.

Common spectral domain OCT and electrophysiological findings in different pattern dystrophies.

Objectives: (1) To investigate and integrate the tomographic, angiographic and electrodiagnostic findings in pattern dystrophy. (2) To correlate visual acuity (VA) with central macular thickness (CMT), the electrooculogram (EOG) and pattern electroretinogram (PERG).

Design: A retrospective study of patients with pattern dystrophy.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

Objectives: To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus.

Methods: Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls.

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

Purpose: To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]).

Methods: A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subjects.

Joubert syndrome: long-term follow-up.

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died.