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   Articles with "onset retinal" as a keyword



Specific ablation of Hippo signalling component Yap1 in retinal progenitors and Müller cells results in late onset retinal degeneration

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recommendations! Published in 2022 at "Journal of Cellular Physiology"

DOI: 10.1002/jcp.30757

Abstract: Yes‐associated protein (YAP) is a major component of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations in humans result in autosomal dominant coloboma. Here, we generated a conditional knockout mouse… read more here.

Keywords: degeneration; retinal degeneration; onset retinal; hippo ... See more keywords
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene

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recommendations! Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2021.1923041

Abstract: ABSTRACT Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to C1QTNF5 gene variants. Materials and methods: Twenty-six patients (21–81 years) with L-ORD due to c.562C>A p.(Pro188Thr) with a mean follow-up… read more here.

Keywords: late onset; onset retinal; 562c pro188thr; retinal degeneration ... See more keywords

Quantitative analysis of longitudinal changes in multimodal imaging of Late-Onset Retinal Degeneration.

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recommendations! Published in 2020 at "Retina"

DOI: 10.1097/iae.0000000000003082

Abstract: PURPOSE To quantitatively analyze clinically relevant features on longitudinal multimodal imaging of L-ORD (late-onset retinal degeneration) to characterize disease progression. METHODS Fundus autofluorescence (FAF), infrared reflectance (IR), and optical coherence tomography (OCT) imaging of 4… read more here.

Keywords: onset retinal; multimodal imaging; late onset; rpd ... See more keywords

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome

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recommendations! Published in 2025 at "Diagnostics"

DOI: 10.3390/diagnostics15131706

Abstract: Sensenbrenner syndrome, or cranioectodermal dysplasia (CED), is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, ectodermal, and renal abnormalities. Ocular involvement, though infrequent, can include retinal dystrophy with early-onset visual impairment. We report a… read more here.

Keywords: retinal dysfunction; onset retinal; wdr19 variants; early onset ... See more keywords