Uveitis in Patients with Retinitis Pigmentosa: 30 Years’ Consecutive Data

Majumder, Parthopratim Dutta; Sukhija, Jaspreet; Roy, Rupak; Sen, Parveen; George, Amala Elizabeth; Ganesh, Sudha K; Biswas, Jyotirmay

doi:10.1080/09273948.2017.1348527

Cited by 20 publications

(15 citation statements)

References 21 publications

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“…Retinitis pigmentosa might be associated with uveitis and ME at any stage of the disease 156,157. The pathophysiology of this edema is poorly understood, it might be related to inflammatory reaction due to autoantibodies and abnormal vascular permeability 158.…”

Section: Therapeutic Managementmentioning

confidence: 99%

<p>Macular edema associated with non-infectious uveitis: pathophysiology, etiology, prevalence, impact and management challenges</p>

Massa

Pipis

Adewoyin

et al. 2019

OPTH

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Macular edema (ME) is the most common sight-threatening complication in uveitis. The diagnostic and therapeutic management of the uveitic macular edema (UME) might be challenging due to the complex diagnostic workup and the difficulties physicians face to find the underlying cause, and due to its usually recurrent nature and the fact that it can be refractory to conventional treatment. Some of the mild cases can be treated with topical steroids, which can be combined with non-steroid anti-inflammatory drugs. However, immunomodulators such as methotrexate, tacrolimus, azathioprine, cyclosporine and mycophenolate mofetil together with anti-tumor necrosis factor-α (anti-TNF alpha) monoclonal antibodies such as adalimumab and infliximab, may be required to control the inflammation and the associated ME in refractory cases, or when an underlying disease is present. This review of the literature will focus mostly on the non-infectious UME.

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Section: Therapeutic Managementmentioning

confidence: 99%

<p>Macular edema associated with non-infectious uveitis: pathophysiology, etiology, prevalence, impact and management challenges</p>

Massa

Pipis

Adewoyin

et al. 2019

OPTH

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“…It is initially manifested by symptoms of night blindness, followed by peripheral visual field constriction and by loss of central vision in the most advanced stages [ 10 ]. Several studies have also demonstrated that uveitis is not an uncommon condition in RP patients [ 11 , 12 , 13 , 14 ]. However, the underlying mechanism explaining why some patients with RP are prone to AU, and vice versa, is largely unknown and remains an important issue to be addressed.…”

Section: Introductionmentioning

confidence: 99%

Depletion of Retinal Dopaminergic Activity in a Mouse Model of Rod Dysfunction Exacerbates Experimental Autoimmune Uveoretinitis: A Role for the Gateway Reflex

Štofková

Zloh

Andreanska

et al. 2021

IJMS

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The gateway reflex is a mechanism by which neural inputs regulate chemokine expression at endothelial cell barriers, thereby establishing gateways for the invasion of autoreactive T cells into barrier-protected tissues. In this study, we hypothesized that rod photoreceptor dysfunction causes remodeling of retinal neural activity, which influences the blood–retinal barrier and the development of retinal inflammation. We evaluated this hypothesis using Gnat1rd17 mice, a model of night blindness with late-onset rod-cone dystrophy, and experimental autoimmune uveoretinitis (EAU). Retinal remodeling and its effect on EAU development were investigated by transcriptome profiling, target identification, and functional validation. We showed that Gnat1rd17 mice primarily underwent alterations in their retinal dopaminergic system, triggering the development of an exacerbated EAU, which was counteracted by dopamine replacement with L-DOPA administered either systemically or locally. Remarkably, dopamine acted on retinal endothelial cells to inhibit NF-κB and STAT3 activity and the expression of downstream target genes such as chemokines involved in T cell recruitment. These results suggest that rod-mediated dopamine release functions in a gateway reflex manner in the homeostatic control of immune cell entry into the retina, and the loss of retinal dopaminergic activity in conditions associated with rod dysfunction increases the susceptibility to autoimmune uveitis.

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“…In fluorescein angiography, leakage was found mainly in the posterior pole but also the periphery in most eyes with a typical RP [ 9 ]. Clinically relevant uveitis was found to be uncommon, with a uveitis prevalence of 0.26% in the RP patient cohort [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype

Fardeau

Alafaleq

Ferchaud

et al. 2022

IJMS

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This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature. This work also includes the longitudinal follow-up of five unrelated cases of unexplained fundus lesions with visual loss associated with a history of hepatosplenomegaly. Wide repeated workup was made to rule out infections, inflammatory diseases, and lysosomal diseases. No variants in genes associated with retinitis pigmentosa, cone–rod dystrophy, and inherited optic neuropathy were found. Molecular analysis was made using next-generation sequencing (NGS) and whole-exome sequencing (WES). The results included two cases sharing ophthalmological signs including chronic macular edema, vascular leakage, visual field narrowing, and electroretinography alteration. Two other cases showed damage to the optic nerve head and a fifth young patient exhibited bilateral complicated vitreoretinal traction and carried a heterozygous mutation in the CBL gene associated with a mutation in the IKAROS gene. Ruxolitinib as a treatment for RASopathy did not improve eye conditions, whereas systemic lesions were resolved in one patient. Mutations in the CBL gene were found in all five cases. In conclusion, a detailed description may pave the way for the CBL mutation ocular phenotype. Genetic analysis using whole-exome sequencing could be useful in the diagnosis of unusual clinical features.

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Uveitis in Patients with Retinitis Pigmentosa: 30 Years’ Consecutive Data

Abstract: Uveitis in RP patients is rare, but not uncommon. Coexistence of these disorders might support the inflammatory pathway in etiology of RP.

Cited by 20 publications

References 21 publications

<p>Macular edema associated with non-infectious uveitis: pathophysiology, etiology, prevalence, impact and management challenges</p>

<p>Macular edema associated with non-infectious uveitis: pathophysiology, etiology, prevalence, impact and management challenges</p>

Depletion of Retinal Dopaminergic Activity in a Mouse Model of Rod Dysfunction Exacerbates Experimental Autoimmune Uveoretinitis: A Role for the Gateway Reflex

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype

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