Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber's hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affects metabolism, and symptomatology includes type 2 diabetes mellitus ( T2DM ), obesity, hypogonadism and gynecomastia in males, progressive bilateral sensorineural hearing loss, cardiomyopathy, nonalcoholic fatty liver disease ( NAFLD ), cirrhosis, and chronic progressive kidney disease. The onset of the above symptoms may vary significantly. The ophthalmic manifestation is early onset cone-rod dystrophy that starts as progressive vision loss, photophobia, and nystagmus in the first months of life. An accurate diagnosis may enable specialists to facilitate a significantly positive effect in the everyday life of a patient. Genetic counseling may also be recommended for these patients. Diagnosis was confirmed by DNA testing, thus highlighting its necessity in everyday practice.