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Diagnostics
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Advances in the Diagnosis of Retinal Diseases
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Advances in the Diagnosis of Retinal Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 2964

Special Issue Editor

Dr. Rajiv Raman

E-Mail Website
Guest Editor
Sankara Nethralaya, Chennai, India
Interests: retinal diseases; diabetic retinopathy; teleophthalmology

Special Issue Information

Dear Colleagues,

The diagnosis of retinal diseases has seen a paradigm change in the last few years. This is due to newer retinal imaging technologies, the emerging role of AI/ML, multimodal imaging of the retina and a greater understanding of imaging biomarkers for disease severity and prognosis.

These advancements in retinal imaging have revolutionized the diagnosis and management of retinal diseases. Modern retinal imaging is advancing at an astonishing rate, with the constant development of new technologies, continuous improvement of existing technologies, and a growing knowledge of their capabilities. Earlier disease diagnosis and more precise monitoring of progression have led to significant improvements in patient care and outcomes.

This Special Issue invites a wide range of original articles, expert reviews and research related to retinal diagnostics and its role in management. The following topics include, but are not limited to: retinal structural imaging, functional tests, artificial intelligence, and imaging biomarkers. The aim of this Special Issue is to broaden the knowledge of recent retinal diagnostics and assist in the efficient management of retinal diseases.

Dr. Rajiv Raman
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • retinal diseases
  • fundus photography
  • OCT and OCTA
  • artificial intelligence

Published Papers (2 papers)

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Review

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23 pages, 16441 KiB  
Review
Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases
by Helia Ashourizadeh, Maryam Fakhri, Kiana Hassanpour, Ali Masoudi, Sattar Jalali, Danial Roshandel and Fred K. Chen
Diagnostics 2023, 13(14), 2413; https://doi.org/10.3390/diagnostics13142413 - 19 Jul 2023
Cited by 1 | Viewed by 1515
Abstract
Adaptive optics (AO) retinal imaging enables individual photoreceptors to be visualized in the clinical setting. AO imaging can be a powerful clinical tool for detecting photoreceptor degeneration at a cellular level that might be overlooked through conventional structural assessments, such as spectral-domain optical [...] Read more.
Adaptive optics (AO) retinal imaging enables individual photoreceptors to be visualized in the clinical setting. AO imaging can be a powerful clinical tool for detecting photoreceptor degeneration at a cellular level that might be overlooked through conventional structural assessments, such as spectral-domain optical coherence tomography (SD-OCT). Therefore, AO imaging has gained significant interest in the study of photoreceptor degeneration, one of the most common causes of inherited blindness. Growing evidence supports that AO imaging may be useful for diagnosing early-stage retinal dystrophy before it becomes apparent on fundus examination or conventional retinal imaging. In addition, serial AO imaging may detect structural disease progression in early-stage disease over a shorter period compared to SD-OCT. Although AO imaging is gaining popularity as a structural endpoint in clinical trials, the results should be interpreted with caution due to several pitfalls, including the lack of standardized imaging and image analysis protocols, frequent ocular comorbidities that affect image quality, and significant interindividual variation of normal values. Herein, we summarize the current state-of-the-art AO imaging and review its potential applications, limitations, and pitfalls in patients with inherited retinal diseases. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Retinal Diseases)
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Other

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4 pages, 2564 KiB  
Interesting Images
Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis
by Mauricio Bayram-Suverza, Karla Alejandra Torres-Navarro, Ángeles Yahel Hernández-Vázquez and Juan Abel Ramírez-Estudillo
Diagnostics 2023, 13(15), 2588; https://doi.org/10.3390/diagnostics13152588 - 3 Aug 2023
Viewed by 913
Abstract
Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and [...] Read more.
Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Retinal Diseases)
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