A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration

We find in TUBB4B-associated retinal degeneration a predilection of disease to the pericentral retina with relative central sparing. The findings support a spectrum of severity within a recurring retinal phenotype that reconciles apparent phenotypic variability reported for this condition.

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Publication Details

Journal
Retinal Cases & Brief Reports
Published
2026-01-22
DOI
https://doi.org/10.1097/icb.0000000000001869
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration

Steven H. Tsang, Rebecca J. Kim, Emily Datz, Artur V. Cideciyan et al.
Retinal Cases & Brief Reports
Retinal Development and Disorders
article

A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration

Steven H. Tsang, Rebecca J. Kim, Emily Datz, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Robert A. Avery, Tomas S. Aleman, Mariejel L. Weber, Erin C. O’Neil, Sophia Zhang, Vivian Wu, Devi P. Maripuri
article en

Abstract

We find in TUBB4B-associated retinal degeneration a predilection of disease to the pericentral retina with relative central sparing. The findings support a spectrum of severity within a recurring retinal phenotype that reconciles apparent phenotypic variability reported for this condition.

Retinal Cases & Brief Reports
Children's Hospital of Philadelphia (US), NewYork–Presbyterian Hospital (US), Penn Presbyterian Medical Center (US)
Openalex Percentile: Top 76%
Retinal Development and Disorders
DOISourceOpenAlex
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A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration — Steven H. Tsang, Rebecca J. Kim, et al. · Retinal Cases & Brief Reports (2026) | TGRS Research Map | TGRS