Publications by authors named "J K Cheetham"

Article Synopsis
  • The study aims to evaluate how functional and structural assessments can serve as endpoints in clinical trials for retinal degeneration linked to USH2A mutations.
  • Participants with specific visual capabilities underwent various eye tests over four years, focusing on understanding changes in their vision.
  • Findings indicated that certain tests were more sensitive to detecting changes, influencing the design of future clinical trials related to this condition.
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Article Synopsis
  • The study aimed to assess self-reported functional vision and the effects of vision loss in patients with USH2A-associated retinal degeneration using the Michigan Retinal Degeneration Questionnaire (MRDQ).
  • It involved 93 participants, with 55 having Usher Syndrome Type 2 (USH2) and 38 having autosomal recessive retinitis pigmentosa (ARRP), all linked to USH2A gene variants.
  • Results showed that MRDQ scores were sensitive to differences based on clinical diagnosis and other factors, and they correlated well with established visual function tests, highlighting the tool's effectiveness in evaluating vision-related functioning.
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Purpose: To describe functional vision (FV) and investigate the relationship between FV, visual acuity (VA), and hill of vision (V) at baseline in patients with biallelic USH2A variants.

Design: Multicenter, international, cross-sectional study.

Methods: In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations.

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Unlabelled: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease manifesting as impaired night vision and peripheral vision loss that progresses to legal blindness. Although several trials of ocular gene therapy for XLRP have been conducted or are in progress, there is currently no approved treatment. In July 2022, the Foundation Fighting Blindness convened an expert panel to examine relevant research and make recommendations for overcoming the challenges and capitalizing on the opportunities in conducting clinical trials of RPGR-targeted therapy for XLRP.

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Background: Nerve transection is the most common form of peripheral nerve injury. Treatment of peripheral nerve injury has primarily focused on stabilization and mechanical cues to guide extension of the regenerating growth cone across the site of transection. The authors investigated the effects of a peripheral nerve matrix (PNM) hydrogel on recovery after nerve transection.

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