Genetic Mutations that May Cause or Contribute to Dry Eyes

Most causes of dry eye disease do not appear to be due to a genetic mutation: namely, excessive time on electronic screens leading to meibomian gland atrophy from decreased blink rates.

However, there may be genetic mutations we could correct in near future for other important causes and risk factors for dry eyes: We are still looking for the gene that causes these disease in many cases below but most researchers strongly believe there are genetic components to each below:

1. Certain Cancers especially on the surface of the eye
2. Sjogren’s syndrome
3. Rosacea
4. Pterygia/pterygium
5. Pinguecula
6. Ehlers-Danlos Syndrome: I have 3 patients with severe MGD who have EDS: never been published the relationship: are there any pre-med students out there that want to help with this paper?
7. Dry Eye—-itself (see Reference 1 below)
8. Rheumatoid Arthritis: we hope to publish a paper showing how RA can destroy meibomian glands.
9. Lupus
10. Any autoimmune disease
11. Isotretinoin damage: this has not at all been studied, but I believe that those patients who experience devastating dry eyes from isotretinoin may be genetically predisposed as there are also many patients who do not have any issue with its use for years. I do think this drug should be banned globally. Still there are other factors involved that make its use devastating and others have no issues: why does this happen? No one knows currently, but there is likely a genetic component even if small.

Diseases that have a genetic mutation can also benefit from stem cell therapy it appears. In the future for these cases, scientists could hopefully correct the genetic mutation before it takes effect in the adult stem cell and/or use adult stem cell therapy to correct any issues.

What is the difference between gene therapy and cell therapy?
Gene therapy involves the transfer of genetic material, usually in a carrier or vector, and the uptake of the gene into the appropriate cells of the body. Cell therapy involves the transfer of cells with the relevant function into the patient.
Some protocols utilize both gene therapy and cell therapy. In this case, stem cells are isolated from the patient, genetically modified in tissue culture to express a new gene, expanded to sufficient numbers, and then returned to the patient. 
AUG 14, 2014
Written By: Rahul T. Pandit, MD
Cornea/External Disease, Refractive Mgmt/Intervention

This retrospective study found an association between the thrombospondin 1 (THBS1) gene and post-surgical inflammation and dry eye.
The association between refractive surgery and dry eye syndrome is well known, but the extent to which genetic factors may contribute has not been adequately investigated. Subjects included 143 military personnel between the ages of 21 and 40 who underwent either LASIK or PRK and had one year of follow up.
Dry eye patients were 2.83 times more likely to carry the SNP1 minor allele of the THBS1 gene. This gene was also correlated with a significant decrease in TSP1 expression in the conjunctival epithelium, along with a concomitant significant increase in the expression of IL-1β, an inflammatory marker associated with dry eye.
Although this study investigated dry eye only in refractive surgery patients, it is nevertheless interesting to note the genetic predisposition to dry eye the authors discovered. The correlation between SNP1 minor allele of the THBS1 gene and dry eye disease was not perfect, indicating once again that dry eye truly is a multifactorial condition.
2. Research Highlight  |   November 2014
Twin Study Implicates Genetic Factors in Dry Eye Disease
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