The dawn of Pharmaco-Genetics for AMD – Page 12 of 57

SD-OCT of the anterior segment using the iVue by Optovue fails to reveal elevations on the iris. The pigmented dots and small spots on the iris visible with a slit lamp are likely just small nevi or freckles and not Lisch nodules. RNFL and GCC were also obtained and revealed a defect in the PMB on the right eye only, suggesting an optic nerve problem on the right side. MRIs of the orbits and brain were within normal limits. See Case #RR 51 for full details. Additional cases of NF1 are presently being evaluated. Some NF experts believe that the choroidal lesions may be very helpful as “biomarkers” for the diagnosis of NF1 in young children. This will be a topic for a future RR.