Research Explained: Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice mutation

Authors: Davide Colavito, Elda Del Giudice, Chiara Ceccato, Maurizio Dalle-Carbonare, Alberta Leon, Agnese Suppiei

Publication Date: March 22, 2018

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/s10038-018-0434-y

Research Explained Summary:

This article reports on a patient with OCNDS whose first presentation was isolated retinal dystrophy, or progressive dysfunction of the retina and therefore, vision. This is the first instance where vision problems were the primary symptom that brought the patient into the clinic and resulted in an OCNDS diagnosis.

At birth, the patient showed no evidence of any disabilities that might have indicated OCNDS or other disorders. However, at four months of age, the patient was admitted to a hospital for suspected low vision and infantile nystagmus, a condition where the patient’s eyes rapidly and involuntarily shake in a horizontal or vertical direction. After doctors examined the individual, a diagnosis of isolated Leber’s congenital amaurosis was reached, which is a family of conditions that include varying degrees of severe vision loss at an early age. The doctors also initiated genetic testing to determine the cause, as this disease is primarily a genetic disorder. By 10 months of age, the patient was displaying symptoms more typical of OCNDS, including poor muscle tone (hypotonia), poor muscle control (ataxia), sleep disturbances, and general failure to reach psychological and motor milestones expected for normal development.

Genetic results showed a c.1061-1G>C mutation in CSNK2A1, the gene whose mutation causes OCNDS. This was the first report of an OCNDS patient with retinal dystrophy. This case report highlights that ocular/retinal symptoms of OCNDs should be monitored and might be more common than previously thought.