Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

Abstract

Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells. Ultra-widefield (UWF) imaging is a useful diagnostic tool for evaluating retinal integrity in IRD, including Stargardt disease, retinitis pigmentosa, cone dystrophies, and Best vitelliform dystrophy. Color or pseudocolor and fundus autofluorescence images obtained with UWF provide previously unavailable information on the retinal periphery, which correlates well with visual field measurement or electroretinogram. Despite unavoidable artifacts of the UWF device, the feasibility of investigations in infants and in patients with poor fixation makes UWF imaging a precious resource in the diagnostic armamentarium for IRD.

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

“…The rate was generally higher than the rate (48%) reported recently by Chen et al ( 2020 ), who studied a large series of Chinese patients affected by XLRS. One possible reason is that ultra‐wide‐field fundus imaging was used for retinal examination in this study, which enabled a more detailed identification of the peripheral retinal changes, and for identification of unnoticed peripheral retinoschisis (Leshno et al 2019 ; Cicinelli et al 2020 ). The most common type of XLRS in this study was FLPS, followed by FLS, then FS and FPS, which is similar to earlier findings (Ores et al 2018 ).…”

Structural evaluation in inherited retinal diseases

“…44 48 Ultra-wide field FAF patterns are also increasingly being used to categorise conditions such as RCD and STGD, including identifying the magnitude and extent of midperipheral and far-peripheral retinal involvment. 46 A SW-SLO system using a 450 nm blue light has been used to image the retina, providing pictures that are referred to as 'colour-FAF'. 49 The emission spectrum can be subdivided into two images: red (560-700 nm) and green (510-560 nm).…”

“…Qualitative assessment of the area of decreased AF is also useful for longitudinal assessment of patients with RPE atrophy. 46 The decrease in signal has been correlated with the loss of RPE, and has been proposed as a metric in MD such as STGD, and cone dystrophies (COD)/CORD. 39 47 In conditions such as choroideraemia and RCD, where there is conserved macular signal due to relatively preserved structure, quantification of the area of intact signal can be a meaningful measurement of disease progression or prevention of degeneration, clinically and in clinical trials, respectively.…”

Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings

“…Night blindness, cataract, presence of macular edema and foveochisis, which are the common ndings of RP and GA, which are both genetically inherited, may cause misdiagnosis. [8,9] Just like in the Case 2, the intact retinal islets, especially in the presence of advanced GA, can be confused with bone spicules. Careful examination of the entire retina, especially including the periphery, with multimodal imaging ndings is very important in the differential diagnosis of GA.…”