Alström syndrome: Two clinical cases with two novel pathogenic variants.

Juan Carlos Herranz-HerasAna BarcelóJuan F Quesada-EspinosaAna M Dorado-Lopez-RosadoPilar Tejada-PalaciosAlicia Muñoz-Gallego

Published in: European journal of ophthalmology (2022)

AS is a rare disease caused by pathogenic variants of ALMS1 gene that causes ocular manifestations in almost 100% of patients. There are many genetic variants of AMLS1 described, but novel pathogenic variants can still be found. Ophthalmologists play an important role in the diagnosis, and AS should be included in the differential diagnosis when retinal dystrophy is suspected.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
optical coherence tomography
genome wide
prognostic factors
pulmonary embolism
early onset
case report
gene expression
optic nerve
patient reported outcomes