Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

Purpose: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.

Treatment of infantile spasms in Saudi Arabia.

Objective: To evaluate the treatment approach and compliance of pediatric neurologists with evidence-based guidelines across Kingdom of Saudi Arabia (KSA). These guidelines that clarify the optimal management of infantile spasms (IS) are not widely followed for various practical reasons.

Methods: Physicians practicing in the field of pediatric neurology in KSA were contacted from the database of national societies.