CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis

Li, Angela S.; Pasricha, Malini Veerappan; Mishra, Kapil; Nguyen, Quan Dong; Beres, Shannon; Wood, Edward H.

doi:10.1016/j.ajoc.2022.101444

Cited by 2 publications

(1 citation statement)

References 28 publications

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“…Uveitis in patients with RP is relatively rare, with a prevalence estimated in one study at approximately 0.26%, although this is likely an underestimation as most patients have milder forms of uveitis and/or are asymptomatic [ 244 ]. Uveitis in RP most commonly presents as anterior uveitis, followed by intermediate uveitis and, even more rarely, as posterior uveitis [ 244 , 245 , 246 , 247 ]. Some forms of uveitis, such as acute zonal occult outer retinopathy and (atypical) advanced birdshot chorioretinopathy may mimic features of RP, such as pigment clumping and retinal vessel attenuation, which leads to initial misdiagnosis [ 248 , 249 ].…”

Section: Management Of Rp-associated Complicationsmentioning

confidence: 99%

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

Nguyen

Moekotte

Plomp

et al. 2023

IJMS

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Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP.

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Section: Management Of Rp-associated Complicationsmentioning

confidence: 99%

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

Nguyen

Moekotte

Plomp

et al. 2023

IJMS

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Retinal Focal Nodular Gliosis (Vasoproliferative Tumors) Have Varied Clinical Courses Requiring Tailored Management: A Case Series

Ie,

Sagoo,

MacLaren

et al. 2024

Ocul Oncol Pathol

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Purpose: Retinal focal nodular gliosis (FNG), also known as vasoproliferative tumors (VPTs), are rare, benign vascular tumors associated with exudation with no current consensus on management. Herein, we describe the varied clinical course and management of three patients with retinal focal nodular gliosis, one of whom is associated with retinitis pigmentosa. Observations: Case 1 is a 76-year-old female who presented with reduced vision and distortion secondary to a vitreous hemorrhage and epiretinal membrane (ERM) as complications of a known small peripheral retinal focal nodular gliosis. She underwent vitrectomy for the hemorrhage to relieve vascular traction and the ERM peel and the tumor was kept under observation. Case 2 is a 24-year-old female with genetically uncharacterized retinitis pigmentosa-like phenotype who presented with gradual loss of central vision in one eye due to cystoid macular oedema (CMO). She was found to have two peripheral retinal areas of focal nodular gliosis located inferonasally. Tumors were treated with cryotherapy and adjuvant intraocular steroid implant to control the CMO. Case 3 is a 28-year-old female with retinitis pigmentosa secondary to genetically confirmed variant in CRB1 gene who presented with intractable right eye cystoid macular oedema and localized inferior serous retinal detachment secondary to a large inferotemporal focal nodular gliosis. Her left eye has no light perception vision due to previous extensive serous retinal detachment and anterior segment ischemia. The right eye tumor was managed with multiple rounds of cryotherapy and laser therapy to control the serous detachment. Despite this, the condition progressed and was ultimately treated with plaque brachytherapy. Unfortunately, this resulted in an extensive retinal inflammation causing annular tractional retinal detachment which was treated with combined pars plana vitrectomy and scleral buckle. Conclusions: We characterized the retinal phenotype of three patients with retinal focal nodular gliosis (vasoproliferative tumors) and found them to have varied clinical courses requiring tailored surgical management. The case associated with retinitis pigmentosa had a known pathogenic variant in Crumbs homolog-1 (CRB1) gene affecting retinal structure and exhibited a more severe clinical course. It is therefore important for patients with retinal dystrophies to undergo thorough peripheral examinations and detect FNG early as they may require prompt, aggressive treatment.

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CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis

Cited by 2 publications

References 28 publications

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

Retinal Focal Nodular Gliosis (Vasoproliferative Tumors) Have Varied Clinical Courses Requiring Tailored Management: A Case Series

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