A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.

PURPOSE: Alström syndrome is a rare autosomal recessive monogenic ciliopathy, which is caused by a mutation of the Alström syndrome 1 gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss, and retinal degeneration. In this study, we aimed to report a novel variant in Alström syndrome 1 gene causing Alström syndrome in a patient presenting with visual impairment.

METHODS

This was a case report.

RESULTS

A 10-year-old male patient presented with photophobia and visual impairment in both eyes. Anterior and posterior segment examinations were unremarkable bilaterally. Optical coherence tomography showed attenuated ellipsoid zone. Electroretinography revealed diminished cone and rod responses consistent with cone-rod dystrophy. Genetic testing demonstrated a novel homozygous variant in Alström syndrome 1 (NM_015120.4) gene. The patient also was found to have early stage dilated cardiomyopathy through systemic evaluation after the diagnosis of Alström syndrome.

CONCLUSION

Cone-rod dystrophy in pediatric population is relatively rare condition that can be associated with syndromic ciliopathies. The authors presented a case of Alström syndrome with a novel variant in Alström syndrome 1 gene based on ophthalmic findings. Ophthalmologists play an important role in the diagnosis of this syndrome and early detection of systemic manifestations.