Tx for Dominant Drusen

Here’s a case of a 41 yocf w/dominant drusen/early ARMD. Not exactly a VT case, but in time, this lady will require adaptive help. So, what else can be done in the meantime? I consulted with Dr. Yves Sauve, Director of Research, University of Alberta Dept. of Ophthamology for more information.

Recommendation: The suggestion was to take fish oil (200mgDHA, 400mgEPA X 3 times per day; or close to that dose) with 5mg zexanthin and 20mg lutein one a day.

Rationale: DHA to nourish the photoreceptors (DHA represents 50% of all FAs in these cells) and allow byproducts to form which some of them are pro-survival such as neuroprotectin D1 (see work by Bazan); you need a balance of antioxidants to prevent the formation of less stable DHA byproducts such as carboxyethylpyrrol CEP (see Salomin and Hollyfied)

Recommendation: She could be tested for mutation in the ABCA4 gene. The mode of transmission is autosomal recessive.

Rationale/Clinical value of such testing? She will know whether she indeed has STGD1 and as treatments become available, we will be able to target precisely for this condition (the person who had stdied it the most in Rando Allikmett)

Recommendation: Follow up should be done with fundus autofluorescence (FAF) to assess elevation of lipofuscin.

Rationale: Lipofiscun is a major toxin that accumulates in the RPE and eventually kills these cells and the overlying photoreceptors. FAF allow monitoring its increase with age and perhaps see a beneficial effect of nutritional intervention such as DHA intake in slowing dow the elevation of fundus autofluorescence. One company is developing a drug to neutralize A2E (major component of lipofuscin). The expert in Dr Janet Sparrow (Columbia U)

Recommendation: One very important advice is to avoid vitamin A supplementation, which can be transformed into bisretinoids (A2E and isoA2E), major components of lipofuscin.

Rationale: Lipofuscin does not pause an oxidative threat, but it is highly immunogenic and is responsible for the abnormal activation of various immune players such as complement activation which can lead to attack of RPE and photoreceptors by resident activated microglial cells and invading macrophages.


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