Purpose: Retinitis pigmentosa is a bilateral retinal degeneration. The primary disorder is still debated.
Methods: We performed a prospective investigation of the ocular circulation directly by color Doppler imaging (CDI). A total of 28 eyes of 14 patients (8 men and 6 women, affected with retinitis pigmentosa) were recruited for this study. For each case were evaluated protosystolic velocity and the resistive index of the ophthalmic artery, central retinal artery, posterior ciliary arteries and choroid. These values, furthermore, have been compared with a control group.
Results: The results of the CDI in the group of RP and in the CG were: in the OA: PSV 31.177 +/- 5.119 cm/sec vs 36.700 +/- 3.152 cm/sec (p < 0.007); RI 0.713 +/- 0.058 vs 0.717 +/- 0.019 (p < 0.0839); in the CRA PSV 7.075 +/- 1.611 cm/sec vs 12.710 +/- 2.795 cm/sec (p < 0.001); RI 0.560 +/- 0.062 vs 0.550 +/- 0.051 (p < 0.234); in the PCA: PSV 8.569 +/- 3.408 cm/sec vs 14.100 +/- 2.571 cm/sec (p < 0.001) with RI 0.634 +/- 0.090 vs 0.681 +/- 0.045 (p < 0.145). In the CHO: PSV 12.312 +/- 2.327 cm/sec vs 16.170 +/- 1.846 cm/sec (p < 0.001) with RI 0.581 +/- 0.072 vs 0.638 +/- 0.050 (p < 0.065).
Conclusion: Our results suggest that in the affected eyes there is a statistically significant reduction in blood flow in ophthalmic and ciliary arteries. These data offer new views on the retinitis cause of pigmentosa and possible therapeutics to be studied.
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Int 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.
Visual loss following secondary retinitis pigmentosa (RP) is a rare complication of cytotoxic chemotherapy. Few cases of docetaxel- and/or platinum-induced retinal toxicity have been reported. Routine ocular examination of patients undergoing chemotherapy is required for early recognition and intervention of ocular toxicity.
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