Abstract
PurposeTo asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE in individuals with NF-1. In order to confirm our initial results we performed EOG examination on a larger group of NF-1 patients.PatientsStudies were performed on 36 patients with clinically diagnosed NF-1 and compared to normal healthy controls.MethodsStandard EOG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.ResultsIn NF-1 patients the Arden indexes of the EOG test were significantly higher primarily due to the lower values of dark troughs. Supernormal EOGs (exceeding the value of the mean + 2 SD from the control group) were present in 58% of NF-1 patients.ConclusionsDysfunction of the RPE is a characteristic feature of individuals with NF-1.
Highlights
Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease is one of the most common genetic multisystem progressive disorders with an incidence of approximately 1:3000 live births
The disorder is characterised by Lisch nodules, optic gliomas, choroidal hamartomas and congenital hypertrophy of the retinal pigment epithelium (CHRPE) [1, 2]
Ocular findings in a group of patients with NF-1 are as follows: Snellen visual acuity – 20/20, Lisch nodules – (65/67) 97% of analysed eyes, choroidal hamartoma – (5/67) 7.4%, CHRPE – (4/67) 5.9%, optic nerve glioma – (3/67) 4.4%, normal colour vision and visual field measured by kinetic perimetry
Summary
Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease is one of the most common genetic multisystem progressive disorders with an incidence of approximately 1:3000 live births. The disorder is characterised by Lisch nodules, optic gliomas, choroidal hamartomas and congenital hypertrophy of the retinal pigment epithelium (CHRPE) [1, 2]. Its protein product has been termed neurofibromin [3, 4] It appears that reduction of neurofibromin expression can lead to abnormalities in the differentiation and migration of melanoblasts and melanocytes which gives rise to characteristic café-aulait spots of the skin [5]. Café-au-lait spots are characterised by increased levels of epidermal melanogenesis [6] and increased numbers of epidermal melanocytes [7] which contain abnormally large pigment granules, known as macromelanosomes. Congenital hypertrophy of retinal pigment epithelium, a rare feature of patients with NF1, consists of focal areas of pigment epithelial cells that are more densely packed with pigmented granules [8]
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