First symptoms and their age of onset in macular telangiectasia type 2

To investigate the first symptoms and their age of onset in a large cohort of patients with macular telangiectasia type 2.

Patients with the characteristic findings of macular telangiectasia type 2 were interviewed. Data collection also included a chart review to determine the delay of the correct diagnosis and visual function 10 years after the onset of first symptoms.

Of 91 patients, 72 (79%) reported impaired reading ability as their first symptom, followed by metamorphopsia in 12%. The age of onset was most frequent (76%) in the sixth or seventh decade of life (50-69 years), and 58% of the patients were symptomatic before the age of 60 years. The median delay between first symptoms and the diagnosis of macular telangiectasia type 2 before the year 2005 was 7 years and has decreased to 1 year thereafter. Ten years after the onset of first symptoms, distance visual acuity of the better eye was ≥20/25 in 35% and ≤20/50 in 17%.

Impaired reading ability was the most common initial visual disturbance of patients with macular telangiectasia type 2, starting generally between the age of 50 and 70 years. Knowledge of the presenting symptoms of macular telangiectasia type 2 together with recently identified characteristic morphologic alterations on retinal imaging will likely lead to earlier accurate diagnosis of this disease entity.