Glaucoma Genetics Lab

The purpose of this weblog is to provide brief summaries of what is known and what is new in glaucoma genetics for those interested in the subject that aren’t genetics or glaucoma experts and can’t access the primary research literature. I will also share my thoughts and opinions on discoveries and controversies in glaucoma genetics as well.

- John Fingert

SINGLE GENE CAUSES OF GLAUCOMA (Mendelian causes of disease) – These genes are each capable of causing glaucoma primarily on their own.

• Myocilin (MYOC) – strongest evidence
• Optineurin (OPTN) – strong evidence
• TANK binding kinase 1 (TBK1) – some confirmatory evidence
• Ankyrin repeat and SOCS box-containing 10 (ASB10) – some conflicting evidence
• WDR36 – conflicting data / weaker evidence
• Neurotrophin 4 (NTF4) – conflicting data / weaker evidence

COMPLEX – MANY GENE CAUSES OF GLAUCOMA (Polygenic or Multifactorial causes of disease) – These genes do not cause glaucoma on their own. They each contribute small risk that can lead to glaucoma when they occur in combination

• Caveolin 1/2 (CAV1/CAV2)
• Toll like receptor 4 (TLR4)