[The diagnostics of tapetoretinal dystrophies using electrophysiological methods]

Area of Science:

• Ophthalmology
• Medical Diagnostics
• Genetics

Context:

• Hereditary tapetoretinal dystrophies are a group of genetic disorders affecting vision.
• Accurate diagnosis is crucial for management and genetic counseling.
• Previous diagnostic criteria lacked standardization, necessitating further research.

Purpose:

• To establish diagnostic criteria for hereditary tapetoretinal dystrophies.
• To evaluate the role of electrophysiological testing in diagnosis.
• To track disease progression and changes in electrophysiological parameters over ten years.

Summary:

• Electrophysiological testing proved effective in diagnosing retinal dystrophies in 495 patients.
• Established internal standards based on international guidelines (ISCEV/ISCERG) for electrophysiologic machine LACE 2000 16-C.
• Identified the most frequent diagnoses: retinal pigment dystrophy, fundus flavimaculatus, Stargardt disease, Best disease, and cone dystrophy.

Impact:

• Provides objective diagnostic criteria for hereditary tapetoretinal dystrophies.
• Enhances diagnostic accuracy and facilitates timely treatment recommendations.
• Correlating electrophysiological findings with clinical data improves diagnostic precision.