Retinitis Pigmentosa

Zhang, Qingjiong

doi:10.1097/apo.0000000000000227

Cited by 95 publications

(38 citation statements)

References 97 publications

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“…ERG demonstrates diminished rod and cone response amplitudes and a delay in their latency [13]. RP has classically been defined as primary degeneration of rod photoreceptors followed by secondary degeneration of cone photoreceptors [14]. However, histopathologic studies have demonstrated that in addition to photoreceptor loss, the choriocapillaris and retinal pigment epithelium (RPE) are also affected in RP [15].…”

Section: Disease Context Of Inherited Retinal Diseasesmentioning

confidence: 99%

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

Ong

Patel

Singh

2019

JCM

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Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid. It is a powerful research tool to study the pathobiology of retinal diseases, including inherited retinal dystrophies. In this review, we provide an overview of the evolution of OCTA technology, compare the specifications of various OCTA devices, and summarize key findings from published OCTA studies in inherited retinal dystrophies including retinitis pigmentosa, Stargardt disease, Best vitelliform macular dystrophy, and choroideremia. OCTA imaging has provided new data on characteristics of these conditions and has contributed to a deeper understanding of inherited retinal disease.

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Section: Disease Context Of Inherited Retinal Diseasesmentioning

confidence: 99%

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

Ong

Patel

Singh

2019

JCM

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“…At least 79 different genes that contribute to proper retinal function have been shown to be mutated in RP. 228,229 In addition to having many causes, RP has diverse modes of inheritance with about 30% to 40% being autosomal dominant, 50% to 60% autosomal recessive, and 5% to 15% X-linked. 226 Although age of onset and presenting symptoms vary, RP advances to a characteristic progressive peripheral loss of vision that is preceded by nyctalopia.…”

Section: Retinitis Pigmentosamentioning

confidence: 99%

Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy

et al. 2018

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Autofluorescence-based imaging techniques have become very important in the ophthalmological field. Being noninvasive and very sensitive, they are broadly used in clinical routines. Conventional autofluorescence intensity imaging is largely influenced by the strong fluorescence of lipofuscin, a fluorophore that can be found at the level of the retinal pigment epithelium. However, different endogenous retinal fluorophores can be altered in various diseases. Fluorescence lifetime imaging ophthalmoscopy (FLIO) is an imaging modality to investigate the autofluorescence of the human fundus in vivo. It expands the level of information, as an addition to investigating the fluorescence intensity, and autofluorescence lifetimes are captured. The Heidelberg Engineering Spectralis-based fluorescence lifetime imaging ophthalmoscope is used to investigate a 30-deg retinal field centered at the fovea. It detects FAF decays in short [498 to 560 nm, short spectral channel (SSC) and long (560 to 720 nm, long spectral channel (LSC)] spectral channels, the mean fluorescence lifetimes (τm) are calculated using bi- or triexponential approaches. These are meant to be relatively independent of the fluorophore's intensity; therefore, fluorophores with less intense fluorescence can be detected. As an example, FLIO detects the fluorescence of macular pigment, retinal carotenoids that help protect the human fundus from light damages. Furthermore, FLIO is able to detect changes related to various retinal diseases, such as age-related macular degeneration, albinism, Alzheimer's disease, diabetic retinopathy, macular telangiectasia type 2, retinitis pigmentosa, and Stargardt disease. Some of these changes can already be found in healthy eyes and may indicate a risk to developing such diseases. Other changes in already affected eyes seem to indicate disease progression. This review article focuses on providing detailed information on the clinical findings of FLIO. This technique detects not only structural changes at very early stages but also metabolic and disease-related alterations. Therefore, it is a very promising tool that might soon be used for early diagnostics.

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“…Retinitis pigmentosa (RP) represents a group of hereditary retinal degenerative disorders of diverse genetic origins that have as their common trait the progressive, irreversible dysfunction, degeneration, and demise of retinal photoreceptor cells, with rods initially undergoing these pathological changes followed eventually by cones [1,2]. Relatively recently, a K42E point mutation in the dehydrodolichyl diphosphate synthase (DHDDS) gene was shown to cause a rare, recessive form of RP (RP59; OMIM #613861) [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59

Rao

Fliesler

Kotla

et al. 2020

Cells

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Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein N-glycosylation in eukaryotic cells. A K42E point mutation in the DHDDS gene causes an autosomal recessive form of retinitis pigmentosa (RP59), which has been classified as a congenital disease of glycosylation (CDG). We generated K42E Dhdds knock-in mice as a potential model for RP59. Mice heterozygous for the Dhdds K42E mutation were generated using CRISPR/Cas9 technology and crossed to generate Dhdds K42E/K42E homozygous mice. Spectral domain-optical coherence tomography (SD-OCT) was performed to assess retinal structure, relative to age-matched wild type (WT) controls. Immunohistochemistry against glial fibrillary acidic protein (GFAP) and opsin (1D4 epitope) was performed on retinal frozen sections to monitor gliosis and opsin localization, respectively, while lectin cytochemistry, plus and minus PNGase-F treatment, was performed to assess protein glycosylation status. Retinas of Dhdds K42E/K42E mice exhibited grossly normal histological organization from 1 to 12 months of age. Anti-GFAP immunoreactivity was markedly increased in Dhdds K42E/K42E mice, relative to controls. However, opsin immunolocalization, ConA labeling and PNGase-F sensitivity were comparable in mutant and control retinas. Hence, retinas of Dhdds K42E/K42E mice exhibited no overt signs of degeneration, yet were markedly gliotic, but without evidence of compromised protein N-glycosylation. These results challenge the notion of RP59 as a DHDDS loss-of-function CDG and highlight the need to investigate unexplored RP59 disease mechanisms.

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Retinitis Pigmentosa

Cited by 95 publications

References 97 publications

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy

Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59

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