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

Abstract excerpt

PURPOSE: To report two clinical cases of Alström syndrome (AS) with novel pathogenic variant of the ALMS1 gene not previously reported. CASE DESCRIPTION: Patient 1 was a 6-year-old female presenting with poor vision. Ophthalmic examination only showed a visual field (VF) with diffusely decreased sensitivity in both eyes. At age of 15, vision and ophthalmic examination remain stable. Patient 2 was a 2-year-old...

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