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Article

Retinal dystrophy as part of TTC21B-associated ciliopathy.

Ophthalmic genetics - 1 Jun 2021

Ben-Yosef Tamar, Asia Batsir Nurit, Ali Nasser Tahleel, Ehrenberg Miriam

Abstract excerpt

Background: TCC21B is a ciliary protein. The most common phenotypic features associated with TCC21B biallelic mutations are nephronophthisis and skeletal abnormalities. To date, retinal dystrophy has been reported in only one patient.Materials and Methods: Clinical evaluation included best-corrected visual acuity, cycloplegic refraction, fundus examination, fundus photography, retinal imaging by optical coherence...

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Share to Ciliopathies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

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Source

Identifiers

PMID: 33599192
DOI: 10.1080/13816810.2021.1888131

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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