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

H Al-HindiM Z ChauhanR SandersH SamarahMeghan J M DeBenedictis Elias I TraboulsiS H Uwaydat

Published in: Ophthalmic genetics (2021)

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

Keyphrases

optical coherence tomography
diabetic retinopathy
early onset
optic nerve
drug induced