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Article

Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.

Advances in experimental medicine and biology - 1 Jan 2025

Sangermano Riccardo, Place Emily M, Pierce Eric A, Bujakowska Kinga M

Abstract excerpt

Inherited retinal degenerations (IRDs) are a group of Mendelian disorders characterized by progressive dysfunction and loss of rod and/or cone photoreceptors. The most common IRD is rod-cone degeneration (RCD, also known as retinitis pigmentosa), which starts with rod photoreceptor cell loss and eventually can lead to cone photoreceptor dysfunction and death. Thus, RCD initially manifests with loss of peripheral...

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Identifiers

PMID: 39930170
DOI: 10.1007/978-3-031-76550-6_7

Genes

TBC1D32

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