Comments & Conclusions
- It is important to note that treatment for the two younger siblings at ages 4 and 5 was being considered but was ultimately rejected by the parents.
- The treatment offered was Gildeuretinal (ALK-001, Alkeus), which works by reducing the rate of vitamin A dimerization.9
- It will remain unknown if treatment at these young ages could have prevented or lessened their visual reduction.
- The theory that a thickened ELM as a transient biomarker for a diagnosis of Stargardt is further substantiated with these siblings.
- The probability of all three siblings having STGD was 1/64, according to autosomal recessive genetic patterns.
- Siblings or other family members of those with a clinical or genetic diagnosis of STGD should be screened.
- Children can generally cooperate for ophthalmic imaging, including OCT and fundus photography, from an early age.
- Treatments on the horizon:
- Metformin is currently being studied as a potential treatment option for Stargardt disease.
- Metformin has been shown to be protective against stress-induced photoreceptor damage in age-related macular degeneration, a similar disease process, by stimulating glucose metabolism and reducing oxidative stress.10
- Since oral, non-invasive treatments may soon be available, early detection will be crucial as this treatment may become the standard of care.11-13