Longitudinal Follow-Up of Macular Telangiectasis Type 2-Like Maculopathy in Hereditary Sensory and Autonomic Neuropathy Type 1.

PURPOSE: To report the long-term follow-up of macular telangiectasia type 2-like disease in a patient with hereditary sensory and autonomic neuropathy 1.

METHODS

A single case was reviewed over 15 years.

RESULTS

A 48-year-old White woman with chronic peripheral neuropathy and fractures presented with worsening blurry vision. Best-corrected visual acuity (BCVA) was 20/70 OD and 20/25 OS. Initial examination showed bilateral subfoveal retinal cavitation and pseudovitelliform lesions, with cone dysfunction on multifocal electroretinography. Genetic testing demonstrated a serine palmitoyl transferase mutation consistent with hereditary sensory and autonomic neuropathy 1. Over 15 years, bilateral full-thickness macular holes, retinal pigmentary changes, and outer retinal veno-venous anastomoses developed. BCVA was 20/70 OU. Bilateral vitrectomy with inverted internal limiting membrane flaps improved BCVA to 20/60 OD and 20/50 OS.

CONCLUSIONS

Hereditary sensory and autonomic neuropathy 1 can cause macular telangiectasia type 2-like maculopathy with atypical features but a long-term course similar to that of sporadic macular telangiectasia type 2, including macular hole formation. Genetic testing for hereditary sensory and autonomic neuropathy 1 should be considered when early peripheral neuropathy precedes macular disease.