Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy

Macular telangiectasia (MacTel) is characterised by perifoveal capillary abnormalities, which can progress to retinal layer loss and cavitation-like changes. Though it occurs predominantly in isolation, a genetic association of MacTel has been noted. Our report aims to demonstrate one such association causing an alteration in serine metabolism leading to neuropathy and maculopathy secondary to Muller cell degeneration.