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Article

Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.

Ophthalmic genetics - 1 Oct 2026

Cao Lauren Y, Duemler Anna, Gao Hua, Govind Kishan, Alekseev Oleg

Abstract excerpt

INTRODUCTION: TUB-like protein 1 (TULP1) is a protein expressed in rod and cone photoreceptors, where it is thought to play a role in ciliary transport. Pathogenic variants in TULP1 have been implicated in a number of retinal conditions, including non-syndromic retinitis pigmentosa, early-onset retinitis pigmentosa, Leber congenital amaurosis, cone dystrophy, and cone-rod dystrophy. We present two siblings, in...

Read the complete abstract on PubMed

Topics

Humans
Male
Siblings
Eye Proteins
Pedigree
Electroretinography
Tomography, Optical Coherence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Macular Degeneration

Mutation

Source

Identifiers

PMID: 41912321
DOI: 10.1080/13816810.2026.2647892

Genes

TULP1
TUB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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