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“RP” – More Than Just A Single Disease

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.

Differential Diagnostics

Refsum Syndrome
Refsum Syndrome
Retinitis Pigmentosa
Retinitis Pigmentosa
Atrophia Gyrata
Atrophia Gyrata
Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis
Choroideremia
Choroideremia
Bardet-Biedl Syndrome
Bardet-Biedl Syndrome

The NCL Foundation

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:

  • to increase public awareness of NCL in order to promote the early diagnosis of the disease
  • to build an NCL-network of medical specialists to collect and co-ordinate existing national and international expertise
  • to initiate research and development concerning possible cures. Experts shall be brought together in order to utilize their particular expertise in the fight against NCL
  • to initiate concrete NCL research projects, for example, by creating research fellowships or other initiatives.

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

poster differential diagnostics

Download the poster “RP” – More Than Just A Single Disease as a PDF document (1.8 MByte)

For additional information, visit:

NCL Foundation

logo ncl foundation

Holstenwall 10
20355 Hamburg
Germany

T: +49 (40) 69 666 74 0
F: +49 (40) 69 666 74 69
E: info[at]ncl-stiftung.de

www.ncl-foundation.com

PRO RETINA Deutschland e. V.

logo pro retina

Vaalser Str. 108
52074 Aachen
Germany

T: +49 (241) 87 00 18
F: +49 (241) 87 39 61
E: pro-retina[at]t-online.de

www.pro-retina.de

supported by

The European Vision Institute

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.

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European Vision Institute EEIG

Main Office
Rue du Trône 98
B-1050 Bruxelles
BELGIUM

Tel: +32-2-5480225
Fax: +32-2-5027533

E-mail
www.europeanvisioninstitute.org

More information

For more information about the European Vision Institute EEIG please visit the EVI website.

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