Genetic Testing for LCA
Identifying the specific genetic cause of LCA is one of the most important steps for patients and families. It opens doors to treatments, clinical trials, and informed family planning.
Why Genetic Testing Matters
Treatment Eligibility
Determines eligibility for gene therapy (e.g., Luxturna requires confirmed RPE65 mutations) and clinical trials targeting specific genes.
Clinical Trial Access
Identifies potential eligibility for ongoing clinical trials for GUCY2D, AIPL1, CEP290, LCA5 and other subtypes.
Syndromic Monitoring
Reveals whether the patient may be at risk for syndromic features (e.g., kidney disease with CEP290 mutations).
Family Planning
Enables genetic counseling, prenatal testing, and preimplantation genetic testing for future pregnancies.
How Genetic Testing Works
Clinical Evaluation
Comprehensive eye examination including fundus examination, OCT imaging, and electroretinogram (ERG). Detailed family history is taken.
Gene Panel Testing (First-Line)
Next-Generation Sequencing (NGS) gene panel testing analyzes 100-300+ retinal disease genes simultaneously. Diagnostic yield: ~70-75% of LCA patients receive a molecular diagnosis. Results in 4-8 weeks.
Whole Exome/Genome Sequencing
If the gene panel is non-diagnostic, Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) can detect mutations in newly discovered genes or deep intronic variants like the CEP290 IVS26 mutation.
Variant Interpretation
Identified variants are classified per ACMG guidelines: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign. Two pathogenic variants in the same gene confirm diagnosis for recessive forms.
Where to Get Tested
Important Notes
- Approximately 20-30% of LCA patients remain without a molecular diagnosis even after comprehensive testing
- Family members (parents, siblings) should also be tested to confirm carrier status
- Genetic counseling is recommended before and after testing