[Multimodal diagnostic of CSNB1 with NYX gene mutation]

Area of Science:

• Ophthalmology
• Medical Genetics
• Neuroscience

Background:

• Complete congenital stationary night blindness (CSNB1) is a group of inherited retinal disorders.
• Diagnosis can be challenging due to factors like language barriers and patient compliance.
• Multimodal diagnostic approaches are crucial for identifying rare genetic causes.

Observation:

• A young male patient presented with symptoms suggestive of CSNB1.
• Clinical history and findings were limited in diagnostic utility.
• Electrophysiology (full-field electroretinography) and imaging (optical coherence tomography) were performed.

Findings:

• Full-field electroretinography and optical coherence tomography aided in classifying the retinal dystrophy.
• Next-generation sequencing identified a rare, causal missense mutation.
• The identified mutation was located in the nyctalopin (NYX) gene.

Implications:

• This case highlights the importance of advanced diagnostic tools for rare genetic eye diseases.
• Molecular genetic analysis is essential for precise diagnosis of CSNB1.
• Understanding NYX gene mutations contributes to the knowledge of hereditary retinal dystrophies.