[Maculopathy with subretinal yellow deposits].
We present the case of a 52-year-old female patient who presented with bilateral loss of vision over the course of several years. Funduscopy revealed multiple drusen in a "honeycomb"-like configuration at the entire posterior pole and in the peripapillary region. Autofluorescence and fluorescence angiography (FLA) showed multiple hyperfluorescent defects which show no leakage due to staining of the drusen-like lesions. Optical coherence tomography (OCT) revealed a marked irregularity of the photoreceptor-retinal pigment epithelium complex. Electroretinography (ERG) was without pathological findings, while the electrooculography (EOG) was abnormal, reflecting a functional disturbance of the retinal pigment epithelium. In consideration of all clinical findings, our patient suffered from Doyne honeycomb retinal dystrophy (DHRD) which is a rare autosomal dominant inherited retinal disease with full penetrance. Patients with DHRD are usually asymptomatic until the age of 30-40 years. In the later stages of this disease, central vision deteriorates as a result of geographic atrophy or choroidal neovascularization.
Klinik und Poliklinik für Augenheilkunde, Fetscherstr., Dresden, Deutschland. naim.terai@uniklinikum-dresden.de
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Terai
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Sandner
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Hadjiraftis
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LE
Pillunat
D001766:Blindness / Q000175:diagnosis* / Q000209:etiology*; D003317:Corneal Dystrophies, Hereditary / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008875:Middle Aged; D015594:Optic Disk Drusen / Q000151:congenital
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