Atypical Retinal Phenotype in a Patient With Alstrom Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.

ABSTRACT: Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however, early-onset progressive retinal degeneration affecting both cones and rods (cone-rod type) is universal, leading to blindness by the teenage years. Other features include cardiomyopathy, kidney dysfunction, sensorineural deafness, and childhood obesity associated with hyperinsulinemia and type 2 diabetes mellitus. Here, we present an unusual and delayed retinal dystrophy phenotype associated with ALMS in a 14-year-old female, with affected cone function and surprising complete preservation of rod function on serial electroretinograms (E

SUBMITTER: Mauring L 

PROVIDER: S-EPMC7472914 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature