This 20YO male presented with a four-year history of bilateral night blindness and progressive vision loss. Vision was no light perception OU.
Color photography of his left eye shows a variably pigmented colobomatous lesion occupying virtually the entire macula. Macular OCT scanning shows loss of the outer retinal bands, a thinned to non-visualized choroid, and posterior bowing of the sclera. Identical findings were noted in his right eye (not shown).
Learning Points:
Posterior staphylomas are most commonly noted with pathologic myopia, although they have been reported in non-highly myopic eyes with retinitis pigmentosa (Xu et al, Retina 2019;39:1299-1304).
Macular staphylomatous/colobomatous lesions have also been described in other inherited retinal diseases, including North Carolina macular dystrophy, which is caused by an MCDR1 mutation (Small et al, JAMA Ophthalmology 2016;134:355-356).
Unfortunately, our patient was subsequently lost to follow-up, so genetic testing was not possible.
