A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c&gt;T in <i>RS1</i>

Tondelli, Nathália Nishiyama; Mencaroni, Beatriz Mello; Lemos, Carolina Maria Barbosa; Sousa, Jefferson Rocha de; Barbosa, Gabriel Castilho Sandoval; Gomes, André Luís; Palma, Mariana Matioli da

doi:10.1080/13816810.2022.2154809

Cited by 1 publication

(1 citation statement)

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“…There is a wide range of phenotypes in XLRS patients, which may differ significantly among or within families with the same variants. In younger patients, the spoke-wheel pattern in the fundus imaging may be obscured by conditions such as vitreous hemorrhage, retinal detachment, and leukocoria mimicking Coat-like disease [40][41][42][43]. It is important for clinicians to consider the possibility of XLRS in young patients who present with unsatisfactory BCVA along with vitreous hemorrhage or leukocoria.…”

Section: Clinical Presentationmentioning

confidence: 99%

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

Yang,

Kang,

Lin

et al. 2023

Diagnostics

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Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing.

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Section: Clinical Presentationmentioning

confidence: 99%