Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Abstract 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 d...

Full description

Bibliographic Details
Main Authors: Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Format: Article
Language:English
Published: BMC 2022-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TTLL5
Inherited retinal dystrophy
Retinitis pigmentosa
Cone–rod dystrophy
Cone dystrophy
Autosomal recessive
Online Access:https://doi.org/10.1186/s13023-022-02295-9

Internet

https://doi.org/10.1186/s13023-022-02295-9

Similar Items