Gene therapy for retinitis pigmentosa

Piri, Niloofar; Grodsky, Jacob D.; Kaplan, HenryJ

doi:10.4103/tjo.tjo_47_21

Cited by 12 publications

(7 citation statements)

References 19 publications

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“…2 Turning ire to ingenuity, he designed and copatented a "telescopic extender for supporting compact camera." 3 The marketed device never caught on with Japanese consumers, partly because, at that time, cameras lacked a system for photographers to verify that they were in frame (also because to desire one's own image in a photograph of one's own making was viewed as being openly narcissistic). Ueda's invention was later described as chindōgu, the Japanese concept of innovations that were just almost useful, their impact blunted by a world that was not yet ready for them.…”

Section: Conflict Ofmentioning

confidence: 99%

“…Thus, the degeneration of photoreceptor cells presents different progressive patterns. 1,2 Although new treatments for RP are being developed, [3][4][5] current practice mainly involves care for residual visual function and surgery or medical therapy for complications. Hence, an appropriate clinical evaluation and estimation method for residual visual function in patients with RP should be established.…”

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confidence: 99%

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Estimation of Visual Function Using Deep Learning From Ultra-Widefield Fundus Images of Eyes With Retinitis Pigmentosa

Nagasato

Sogawa²,

Tanabe³

et al. 2023

JAMA Ophthalmol

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ImportanceThere is no widespread effective treatment to halt the progression of retinitis pigmentosa. Consequently, adequate assessment and estimation of residual visual function are important clinically.ObjectiveTo examine whether deep learning can accurately estimate the visual function of patients with retinitis pigmentosa by using ultra-widefield fundus images obtained on concurrent visits.Design, Setting, and ParticipantsData for this multicenter, retrospective, cross-sectional study were collected between January 1, 2012, and December 31, 2018. This study included 695 consecutive patients with retinitis pigmentosa who were examined at 5 institutions. Each of the 3 types of input images—ultra-widefield pseudocolor images, ultra-widefield fundus autofluorescence images, and both ultra-widefield pseudocolor and fundus autofluorescence images—was paired with 1 of the 31 types of ensemble models constructed from 5 deep learning models (Visual Geometry Group–16, Residual Network–50, InceptionV3, DenseNet121, and EfficientNetB0). We used 848, 212, and 214 images for the training, validation, and testing data, respectively. All data from 1 institution were used for the independent testing data. Data analysis was performed from June 7, 2021, to December 5, 2022.Main Outcomes and MeasuresThe mean deviation on the Humphrey field analyzer, central retinal sensitivity, and best-corrected visual acuity were estimated. The image type–ensemble model combination that yielded the smallest mean absolute error was defined as the model with the best estimation accuracy. After removal of the bias of including both eyes with the generalized linear mixed model, correlations between the actual values of the testing data and the estimated values by the best accuracy model were examined by calculating standardized regression coefficients and P values.ResultsThe study included 1274 eyes of 695 patients. A total of 385 patients were female (55.4%), and the mean (SD) age was 53.9 (17.2) years. Among the 3 types of images, the model using ultra-widefield fundus autofluorescence images alone provided the best estimation accuracy for mean deviation, central sensitivity, and visual acuity. Standardized regression coefficients were 0.684 (95% CI, 0.567-0.802) for the mean deviation estimation, 0.697 (95% CI, 0.590-0.804) for the central sensitivity estimation, and 0.309 (95% CI, 0.187-0.430) for the visual acuity estimation (all P &lt; .001).Conclusions and RelevanceResults of this study suggest that the visual function estimation in patients with retinitis pigmentosa from ultra-widefield fundus autofluorescence images using deep learning might help assess disease progression objectively. Findings also suggest that deep learning models might monitor the progression of retinitis pigmentosa efficiently during follow-up.

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Section: Conflict Ofmentioning

confidence: 99%

mentioning

confidence: 99%

Estimation of Visual Function Using Deep Learning From Ultra-Widefield Fundus Images of Eyes With Retinitis Pigmentosa

Nagasato

Sogawa²,

Tanabe³

et al. 2023

JAMA Ophthalmol

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“…About 150 unique mutations in RHO cause about 40% of adRP cases [6]. Of the numerous mutations that have been identified in RHO, the P23H mutation is the most prevalent autosomal dominant mutation in the United States, accounting for 10% of adRP cases [1,[6][7][8]. The P23H mutation is almost exclusive to a population of Americans of Western European origin due to a founder effect from a shared ancestor [1].…”

Section: Proline-23-histidine Mutation and Its Effect On Cell Functionmentioning

confidence: 99%

Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa

Justin¹,

Girach²,

Maldonado³

2023

Current Opinion in Ophthalmology

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Purpose of reviewTo discuss antisense oligonucleotide (ASON) therapy for autosomal dominant retinitis pigmentosa (adRP) caused by the proline-23-histidine (P23H) mutation in the rhodopsin gene. Recent findingsViral and nonviral therapies to treat adRP are currently under investigation. A promising therapeutic option is a nonviral approach using ASONs. This form of genetic therapy has demonstrated a dose-dependent and highly selective reduction of P23H mutant rhodopsin mRNA in animal models, and it is currently being investigated as a human phase 1/2 clinical trial.

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“…RP is a genetically heterogeneous disease caused by mutations in more than sixty genes and follows autosomal recessive, autosomal dominant, and X-linked inheritance patterns [ 43 ]. While RP can be attributed to mutations in multiple genes, autosomal dominant RP [ 44 ] is largely linked to a mutation in the rhodopsin gene, which encodes the most abundant protein in the rod photoreceptor cells of the retina. Rhodopsin ( RHO ) plays a central role in the phototransduction pathway, and when mutated, leads to retinal dysfunction and degeneration of the photoreceptors in a rod-cone manner [ 45 ].…”

Section: Base Editing In Retinitis Pigmentosa (Rp)mentioning

confidence: 99%

Base and Prime Editing in the Retina—From Preclinical Research toward Human Clinical Trials

Yee

Wert

2022

IJMS

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Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases that are one of the leading causes of vision loss in young and aged individuals. IRDs are mainly caused by a loss of the post-mitotic photoreceptor neurons of the retina, or by the degeneration of the retinal pigment epithelium. Unfortunately, once these cells are damaged, it is irreversible and leads to permanent vision impairment. Thought to be previously incurable, gene therapy has been rapidly evolving to be a potential treatment to prevent further degeneration of the retina and preserve visual function. The development of clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) base and prime editors have increased the capabilities of the genome editing toolbox in recent years. Both base and prime editors evade the creation of double-stranded breaks in deoxyribonucleic acid (DNA) and the requirement of donor template of DNA for repair, which make them advantageous methods in developing clinical therapies. In addition, establishing a permanent edit within the genome could be better suited for patients with progressive degeneration. In this review, we will summarize published uses of successful base and prime editing in treating IRDs.

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Gene therapy for retinitis pigmentosa

Cited by 12 publications

References 19 publications

Estimation of Visual Function Using Deep Learning From Ultra-Widefield Fundus Images of Eyes With Retinitis Pigmentosa

Estimation of Visual Function Using Deep Learning From Ultra-Widefield Fundus Images of Eyes With Retinitis Pigmentosa

Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa

Base and Prime Editing in the Retina—From Preclinical Research toward Human Clinical Trials

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