Practical guide to genetic screening for inherited eye diseases

Area of Science:

• Ophthalmology
• Genetics
• Medical Diagnostics

Background:

• Genetic eye diseases affect approximately 1 in 1000 individuals globally, with the molecular basis often unidentified.
• Establishing a genetic diagnosis is crucial for accessing emerging gene therapies and clinical trials for inherited retinal diseases.
• The success of gene therapy for autosomal recessive *RPE65*-retinopathy underscores the importance of genetic insights.

Purpose of the Study:

• To provide a comprehensive guide for managing patients with genetic eye diseases.
• To review various genetic testing modalities, emphasizing next-generation sequencing techniques.
• To discuss variant interpretation, family planning, and the integration of genomic medicine in ophthalmology.

Main Methods:

• Review of current literature on genetic eye diseases and testing methodologies.
• Focus on next-generation sequencing (NGS) including targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS).
• Discussion of pre- and post-test genetic counseling, inheritance patterns, and variant interpretation.

Main Results:

• Identification of disease-causing gene variants enhances understanding of disease mechanisms and inheritance.
• Comparison of the advantages and disadvantages of different genetic testing approaches.
• Exploration of family planning considerations for affected individuals and their relatives.

Conclusions:

• Genetic diagnosis is essential for patients to benefit from advancements in ocular gene therapy and precision medicine.
• Genomic medicine is poised to become integral to all ophthalmology subspecialties for disease prevention and targeted therapeutics.
• A systematic approach to genetic testing and counseling improves patient management and outcomes in inherited eye conditions.