There are more than 100 forms of hereditary retinal degenerative diseases. An early and correct diagnosis is a “ticket for life” and can be very important both for medical care as well as for quality of life and life choices. However, diagnosis is often made very late. For example, the treatable Refsums syndrome is detected on average 11 years after the first visit to the ophthalmologist. The correct diagnosis of the “prognosis range” is also important in order to make informed long-term education and career choices. Furthermore, the types of hereditary forms, particularly syndromal forms, have their own particular important methods for managing the disease.
In order to draw attention to the importance of differential diagnosis, the NCL Foundation and PRO RETINA Deutschland e. V. have dedicated themselves to this issue as a joint project. This poster describes different forms of hereditary retinal degeneration with their main symptoms and selected findings.
The aim of the non-profit foundation, founded in 2002, is to employ at least one qualified scientist to fight the very rare, fatal metabolic disease Neuronal Ceroid Lipofuscinoses through the following objectives:
Since ophthalmologists are the first medical group exposed to potential cases of neuronal ceroid lipofuscinosis, it is especially important to systematically inform this group in order to avoid frequent incorrect diagnoses – mostly retinitis pigmentosa.
More information on the topic of neuronal ceroid lipofuscinosis and ophthalmologists is available on the website www.ncl-stiftung.de/englisch/disease/medical/ophthalmologists/index.php
Download the poster “RP” – More Than Just A Single Disease as a PDF document (1.8 MByte)
The European Vision Institute European Economic Interest Grouping (EVI EEIG) was legally constituted under European law in the late year 2003. The major objectives of EVI are to encourage cross-border cooperation in Vision Research with special emphasis on supporting research, training, health information, dissemination and other programs in the areas of blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight as well as the special health problems and requirements of the blind and visually disabled.
The members of EVI are vision scientists, research institutes / institutions, universities, private companies and patient organisations. At present, the chairman is Prof. E. Zrenner, Germany, who is supported by the Steering Committee, consisting of Profs. J. Cunha-Vaz, Portugal, P. Luthert, UK, J. Sahel, France, A. Wenzel, Switzerland and N. Pfeiffer, Germany. The Board of Trustees is formed by the Profs. C. Reme, Switzerland, T. van Veen, Sweden and E. Luetjen-Drecoll from Germany.
EVI was not formed for the purpose of making profits for itself. Its function is to carry out activities ancillary to those of its members, including but not restricted to research, technological development, organisation, management, fundraising and publicity pertinent to the defined aims to safeguard the procedures for high-quality Vision Research throughout Europe and worldwide.