K 703
Choroidal manifestation of neurofibromatosis (NF)C.-M. Weich, A.-M. Palmowski, M. Lang, K. W. Ruprecht
Intruduction: In a Medline-search of the last 15 years (search for: neurofibromatosis and retina, neurofibromatosis and choroid) hamartomas of retina and choroid were fequently mentioned (NFI and NFII) whereas epiretinal membranes (NFII) or window defects of the pigment epithelium were rarely described. The search did not reveal choroidal manifestations as described below.
Patient and methods: A 47 year old female with a 27 year history of neurofibromatosis presented with loss of vision occurring over a 4 month period. VA was 0,8 OD and 0,2 OS (history of presumed refractive amblyopia OS).
Results: Slit lamp examination revealed heterochromia OS as well as Lisch-nodules OU and a cortical cataract OU.
Ophthalmoscopy showed atrophy of the pigment epithelium and diffuse placoid light flecks of the retina reaching to the periphery OD. An atrophy of the optic nerve head OS was atributed to a glioma of the optic nerve (verified on ultrasound).
Discussion: Other than the typical ophthalmological findings of neurofibromatosis (Lisch-nodules, herterochromia, cataract, glioma of the optic nerve, atrophy of the pigment epithelium) our patient showed diffuse placoid flecks of the retina due to choroidal involvement. These flecks may be attributed to bundels of non pigmented Schwann-cells and fibroblasts causing placoid thicking.
Department of Ophthalmology and University Eye Hospital, Kirrberger Str. 1, D-66424 Homburg (Saar)