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Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (30 May 2024) | Viewed by 467

Special Issue Editor


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Guest Editor
Ophthalmological Department, Jagiellonian University Collegium Medicum, Ophtahalmology and Obular Oncology Clinic of University Hospital, Kraków, Poland
Interests: ocular oncology; cataract surgery; brachytherapy; proton beam therapy; research
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Patients known to have systemic diseases may develop ocular problems that require the attention of an ophthalmologist. In the past few years, imaging diagnostic techniques have advanced significantly, including optical coherence tomography (OCT), but they do not distinguish between different etiologic or pathogenetic factors which makes the therapeutic approach challenging, impacting the patient’s quality of life. Complementing imaging tools, new molecular techniques have contributed to a better understanding of the pathogenesis of some noninfectious ocular disorders but also provided a more sensitive and specific diagnosis of infectious causes.

Ocular signs and symptoms may signal serious underlying systemic disorders. The purpose of our Special Issue is to provide an overview of ophthalmological symptoms in various disease types: autoimmune, idiopathic, vascular, congenital, traumatic, neoplastic, infectious, metabolic, and toxins. Although pure clinical research does not meet our journal’s aim and scope, clinical data added with molecular mechanical studies will be warmly welcomed.

Prof. Dr. Bożena Romanowska-Dixon
Guest Editor

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Keywords

  • diagnosis
  • uveitis
  • keratitis
  • ocular inflammation
  • hypersensitivity

Published Papers (1 paper)

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12 pages, 2212 KiB  
Case Report
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes
by Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller and Maciej R. Krawczynski
Int. J. Mol. Sci. 2024, 25(11), 5759; https://doi.org/10.3390/ijms25115759 - 25 May 2024
Viewed by 219
Abstract
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected [...] Read more.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients’ diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: ABHD12, FLVCR1, and PNPLA6. The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver–McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features. Full article
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