Macular telangiectasia type 2 accompanied by solitary retinal astrocytic hamartoma (case report)

BACKGROUND: To present a coincidence of macular telangiectasia type 2 and solitary retinal astrocytic hamartoma in one patient. CASE PRESENTATION: A 50-year-old woman was examined in the Department of Ophthalmology of University hospital Kralovske Vinohrady for complaints of metamorphopsia in her left eye. Her uncorrected visual acuity (VA) was 4/4 on Early Treatment Diabetic Retinopathy Study charts (ETDRS), on the retina of her left eye white, prominent, partially calcified tumour 1 disc diameter in diameter, 1,5 disc diameter from the foveola was detected on the retina. In the macular region of both eyes, parafoveal greying with crystalline deposits and changes in retinal vasculature were visible. We performed following examinations: fluorescein angiography (FA), B-scan ultrasound, spectral domain optical coherence tomography (SD-OCT) including photo documentation. FA showed partial hyperfluorescence of mulberry-like surface of the tumour typical for retinal astrocytic hamartoma. Parafoveally in both eyes, leakage from parafoveal telangiectasia was apparent. SD-OCT showed cystoid space in the macular region of both eyes as well as changes in inner and outer photoreceptor segment junction in left eye. SD-OCT of the tumour showed proliferation in retinal nerve fibre layer with normal structure of underlying retinal layers and choroid. Ultrasound examination of the tumour detected solid, highly echogenic prominent tumour with high reflectivity and acoustic shadow. CONCLUSION: A coincidence of two relatively rare clinical units, macular telangiectasia type 2 and solitary astrocytic hamartoma was detected as a unique and rare observation.