This is also called “enhanced s-cone” or “blue cone” syndrome. It is an autosomal recessive mutation where you get excessive s-cones at the expense of other photoreceptor subtypes. Because of this, patients have an increased sensitivity to blue light, night blindness, and some pigmentary retinal degeneration. On exam, you can see macular schisis that looks like CME or juvenile x-linked retinoschisis that doesn’t leak on FA. Supposedly, you can also see an empty vitreous and changes on ERG.
