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TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two
H Al-Hindi1, M Z Chauhan1, R Sanders1
1Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
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.
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