Retinitis pigmentosa (RP) is often undetected in its early stages. Artificial intelligence (AI) has emerged as a promising tool in medical diagnostics. Therefore, we conducted a systematic review and meta-analysis to evaluate the diagnostic accuracy of AI in detecting RP using various ophthalmic images. We conducted a systematic search on PubMed, Scopus, and Web of Science databases on December 31, 2022. We included studies in the English language that used any ophthalmic imaging modality, such as OCT or fundus photography, used any AI technologies, had at least an expert in ophthalmology as a reference standard, and proposed an AI algorithm able to distinguish between images with and without retinitis pigmentosa features. We considered the sensitivity, specificity, and area under the curve (AUC) as the main measures of accuracy. We had a total of 14 studies in the qualitative analysis and 10 studies in the quantitative analysis. In total, the studies included in the meta-analysis dealt with 920,162 images. Overall, AI showed an excellent performance in detecting RP with pooled sensitivity and specificity of 0.985 [95%CI: 0.948-0.996], 0.993 [95%CI: 0.982-0.997] respectively. The area under the receiver operating characteristic (AUROC), using a random-effect model, was calculated to be 0.999 [95%CI: 0.998-1.000; P < 0.001]. The Zhou and Dendukuri I² test revealed a low level of heterogeneity between the studies, with [I = 19.94%] for sensitivity and [I = 21.07%] for specificity. The bivariate I² [20.33%] also suggested a low degree of heterogeneity. We found evidence supporting the accuracy of AI in the detection of RP; however, the level of heterogeneity between the studies was low.
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http://dx.doi.org/10.1016/j.survophthal.2023.11.010 | DOI Listing |
Cells
January 2025
Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Ave., Cleveland, OH 44106, USA.
Retinitis pigmentosa (RP) is a hereditary disease characterized by progressive vision loss ultimately leading to blindness. This condition is initiated by mutations in genes expressed in retinal cells, resulting in the degeneration of rod photoreceptors, which is subsequently followed by the loss of cone photoreceptors. Mutations in various genes expressed in the retina are associated with RP.
View Article and Find Full Text PDFInt J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Small Animal Clinical Sciences, Michigan State University, East Lansing, Michigan, USA.
Background: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease.
View Article and Find Full Text PDFCureus
December 2024
Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Chiba, JPN.
Objectives This study aimed to identify the etiology and the direction of dislocation of the natural crystalline lens or intraocular lens (IOL) in IOL intrascleral fixation surgery and to determine the change in intraocular pressure (IOP) after surgery. Methods We retrospectively investigated the diagnosis, direction of lens and IOL dislocation, and IOP before and after surgery (preoperatively and one day, one week, and one month postoperatively) in 236 eyes from 228 patients who underwent IOL intrascleral fixation at Chiba University Hospital between February 2015 and September 2020. Results IOL intrascleral fixation was performed in 48 (20.
View Article and Find Full Text PDFEye (Lond)
January 2025
Janssen-Cilag GmBH, Neuss, Germany.
Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.
Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.
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