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March 3, 2026Retinal Cases & Brief Reports0 citations

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

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SZSophia ZhangRARobert A. AveryVWVivian Wu

Key Points

  • Findings show a predilection of retinal degeneration towards the pericentral retina, with relative sparing of the center.
  • In this study, a spectrum of severity in retinal phenotype is supported by observed clinical variability.
  • Observational analysis across patient cases reveals phenotypic variability in TUBB4B-associated retinal conditions.
  • Significant implications arise regarding diagnosis and treatment, underscoring the need for personalized approaches.

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.

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Cite This Study

Zhang et al. (2026) studied this question.

synapsesocial.com/papers/69a75b61c6e9836116a229a7https://doi.org/10.1097/icb.0000000000001869
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