TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases

H Al-Hindi; M Z Chauhan; R Sanders; H Samarah; M DeBenedictis; E Traboulsi; S H Uwaydat

doi:10.1080/13816810.2021.2010769

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases

Ophthalmic Genet. 2022 Apr;43(2):277-281. doi: 10.1080/13816810.2021.2010769. Epub 2021 Dec 5.

Authors

H Al-Hindi¹, M Z Chauhan¹, R Sanders¹, H Samarah², M DeBenedictis³, E Traboulsi³, S H Uwaydat¹

Affiliations

¹ Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
² Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, USA.
³ Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.

PMID: 34865612
DOI: 10.1080/13816810.2021.2010769

Abstract

Purpose: To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.

Methods: Case report.

Results: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy. In both patients, a unique pattern of perivascular retinal degeneration was noted. Electroretinography was consistent with a cone-rod dystrophy. Sequence analysis identified pathogenic variants in the TULP1 gene c.1087 G > A, p.(Gly363Arg); c.1568 G > A, p.(Cys523Tyr); and c.821delA, p.(Lys274ArgfsTer36).

Conclusion: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.

Keywords: TULP1; macular degeneration; retinal dystrophy.

Publication types

Case Reports

MeSH terms

Electroretinography
Eye Proteins* / genetics
Female
Humans
Pedigree
Phenotype
Retinal Dystrophies* / diagnosis
Retinal Dystrophies* / genetics
Tomography, Optical Coherence

Substances

Eye Proteins
TULP1 protein, human