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Open Access 01-12-2019 | Ptosis | Case report

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

Authors: Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi

Published in: BMC Ophthalmology | Issue 1/2019

Abstract

Background

Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1.

Case presentation

Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with a relatively stable ocular appearance during second decade, late onset of nystagmus and dyschromatopsia (after 20 years) and preserved vision during the third decade of life. One sibling had late onset hearing loss and both siblings had symmetric high myopia, normal stature, and ptosis. Clinical findings revealed structural and functional tests consistent with a cone-rod dystrophy. Novel variants c.9894dupC (p.S3298 fs) and c.10769delC (p.T3590 fs) in ALMS1 gene were found.

Conclusions

Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity.

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Title: A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
Authors: Maria F. Shurygina
Maria A. Parker
Catie L. Schlechter
Rui Chen
Yumei Li
Richard G. Weleber
Paul Yang
Mark E. Pennesi
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Ptosis
Nystagmus
Published in: BMC Ophthalmology / Issue 1/2019
Electronic ISSN: 1471-2415
DOI: https://doi.org/10.1186/s12886-019-1259-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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