ABSTRACT Congenital stationary night blindness encompasses a heterogeneous group of inherited retinal dystrophies characterized by impaired scotopic vision from birth. This article provides a comprehensive overview of congenital stationary night blindness, focusing on its genetic underpinnings, clinical manifestations, and diagnostic approaches, with a specific emphasis on variants in the CACNA1F gene. Through a detailed case report of a 49-year-old male with congenital stationary night blindness attributed to a hemizygous variant in CACNA1F, we illustrate typical clinical presentations and correlate them […]

ABSTRACT Syphilis is a sexually transmitted infection caused by the spirochete Treponema pallidum. Ocular involvement can occur at any time, and it may affect 10% of patients in the secondary stage, and from 2% to 5% in the tertiary stage. Uveitis is the most common presentation of ocular syphilis, affecting 0.4% to 8% of patients with systemic disease. Chorioretinitis is the most common posterior alteration. We present the case of a 53-year-old male patient, presenting with bilateral low visual acuity […]

To describe the electrophysiological alterations in a very rare case of Oguchi’s disease. A 17-year-old italian girl complaining of night blindness underwent complete ophthalmological exams, including electrophysiological tests. Rod responses were nondetectable in full-field electroretinogram (ERG). The photopic ERG funtions, including the 30 Hz flicker ERG response was normal, while the scotopic b-wave was diminished in amplitude. The electrooculography (EOG) ratios within the normal range were 208% in the right eye and 222% in the left eye. The Mizuo-Nakamura phenomenon […]