RESUMO
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 male with poor vision, photophobia, and nystagmus. ERG showed a severe decrease in cone and rod responses. At age of 6, his vision is lower than 0.1 (decimal scale) and VF is severely constricted. Both of them presented with dilated cardiomyopathy in their first's months of life and patient 2 developed sensorineural deafness along with follow-up. Research genetic testing revealed two loss-of-function heterozygous genetic variants in the ALMS1 gene in both patients, so the diagnosis of AS was made. CONCLUSIONS: 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.
