Ophthalmogenetics

Main Areas of Ophthalmogenetics

1. Hereditary Retinal Dystrophies (largest group)

   • Retinitis pigmentosa (RP) — a heterogeneous group involving >80 genes. Early symptoms: night blindness and narrowing of the visual field.
   • Leber congenital amaurosis (LCA) — congenital blindness, often detected in the first months of life.
   • Syndromic retinal disorders:
     • Usher syndrome — affects both hearing and vision.
     • Bardet–Biedl syndrome — involves vision, metabolism, and kidney function.

2. Glaucoma

   • Monogenic forms (e.g., mutations in MYOC, OPTN).
   • Often polygenic in nature with environmental modifiers.
   • In children: congenital glaucoma (genes CYP1B1, LTBP2).

3. Cataract

   • Congenital — genes CRYAA, CRYBB2, GJA8.
   • Age-related — partially genetically determined; associated with oxidative stress and specific polymorphisms.

4. Aniridia

   • Absence of the iris; classic gene: PAX6.
   • Often part of WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, Retardation).

5. Coloboma, Microphthalmia, Anophthalmia

   • Arise due to disturbances in ocular embryogenesis.
   • Common in syndromes such as CHARGE and Goldenhar.

Diagnostic Methods

• Comprehensive ophthalmological examination.
• Next-Generation Sequencing (NGS) using ophthalmogenetic gene panels.
• Targeted Sanger sequencing when a specific diagnosis is suspected.
• aCGH or MLPA to detect deletions/duplications.
• Whole-exome sequencing (WES) for complex cases.

Preventive Screening

Preventive genetic screening helps identify hidden genetic and metabolic disorders before symptoms appear, enabling early intervention, reducing the risk of severe complications and disability, and supporting a personalized lifelong medical supervision strategy.

Each genetic test at our Center includes free genetic counseling by a clinical geneticist to explain the results.