Article
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Orphanet journal of rare diseases - 1 Apr 2022
Oh Jin Kyun, Vargas Del Valle José G, Lima de Carvalho Jose Ronaldo, Sun Young Joo, Levi Sarah R, Ryu Joseph, Yang Jing, Nagasaki Takayuki, Emanuelli Andres, Rasool Nailyn, Allikmets Rando, Sparrow Janet R, Izquierdo Natalio J, Duncan Jacque L, Mahajan Vinit B, Tsang Stephen H
Abstract excerpt
BACKGROUND: Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. This study describes the unusual phenotypes of three patients with...
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