Macular telangiectasia type 2 (MacTel) in a 34-year-old patient

Abstract

We report macular telangiectasia type 2 (MacTel) in a 34-year-old man, the youngest patient so far published with MacTel type 2. The patient presented with metamorphopsia and impaired reading ability. Diagnosis was based on bilateral abnormal macular autofluorescence, perifoveal telangiectasia with fluorescein angiographic hyperfluorescence without cystoid oedema, a small foveal avascular zone, asymmetric configuration of the foveal pit, disruptions in the inner segment/outer segment layer and hyper-reflective haze and spots in the outer nuclear layer. Although MacTel usually manifests with a slowly progressive decrease in visual acuity in the fifth to seventh decades of life, younger patients may occasionally be diagnosed with the disease. Awareness of subtle signs of the condition is essential for early diagnosis.

Figure 1

Left eye of the index patient. (A) Autofluorescence imaging shows loss of the normal central attenuation. (B) The early phase fluorescein angiogram showing telangiectatic capillaries invading the central macular area with very small avascular zone. (C) The 10 min fluorescein angiogram showing perifoveolar diffuse hyperfluorescence corresponding to telangiectatic capillaries and increased autofluorescence.

Figure 2

Left eye of the index patient. Horizontal spectral domain optical coherence tomography scan 100 μ superior to the foveal centre showing a relatively flat and asymmetric slope with a thickness of 212 μ superior to the fovea and 180 μ in the thinnest area temporal to the fovea. The outer retina is irregular, with thinned and thickened areas, and showing a diffuse hyper-reflective haze. The inner segment/outer segment line is focally attenuated.