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Article

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

Ophthalmic genetics - 1 Apr 2022

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

Abstract excerpt

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...

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PMID: 34865612
DOI: 10.1080/13816810.2021.2010769

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