Heredit�re Netzhaut-Aderhaut-Dystrophien

Abstract

Hereditary retinochoroidal dystrophies are a heterogeneous group of disorders characterised by progressive loss of visual acuity or visual field. They can manifest at every age of life. The basic knowledge of retinal physiology and pathophysiology, diagnostic approach, therapeutic limitations and patient counselling are summarised. Hereditary retinochoroidal dystrophies are usually monogenic disorders. The diagnosis is based on a combined assessment of patient history and the results of morphological, electrophysiological, psychophysical and molecular genetic evaluations. Patients should undergo measurement of refraction and visual acuity testing, perimetry, ophthalmoscopy, full-field and multifocal electroretinography. Additional methods, e.g. fluorescein angiography, electrooculography or laboratory testing are helpful in certain cases. For promising new methods like measurement of retinal pigment epithelium autofluorescence or optic coherence tomography further evaluation of their value for differential diagnosis is required. General molecular genetic testing is still limited due to technical and financial limitations. A detailed differential diagnosis and long-term follow-up are advisable for patient counselling and the development of new therapeutic options. To date, therapy is limited. Major tasks for the ophthalmologists are providing low vision aids and adequate patient counselling.

An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies

“…Diagnosis was established by a team of four senior resident ophthalmologists at the Eye University Hospital Tuebingen, and was based on a comprehensive analysis of medical history, clinical investigation including bestcorrected visual acuity, Goldmann or semiautomatic kinetic perimetery, color testing (Panel D15 test), examination of anterior segment and funduscopy, Ganzfeld ERG (in every patient) and mfERG (in selected patients) according to current ISCEV protocols [7]. Only some of the patients could be genetically tested, and in a fraction of them it was possible to verify the diagnosis genetically.…”

Therapiekonzepte bei erblichen Netzhautdystrophien

“…In der Altersgruppe zwischen 21 und 60 Jahren ist diese Erkrankungsgruppe die häufigs-te Ursache für Erblindung oder schweren Sehverlust [1]. Das therapeutische Vorgehen begrenzte sich lange auf unterstützende Maßnahmen wie den Ausgleich von Refraktionsfehlern, die Anpassung von Sehhilfen, die Optimierung der Umgebungsbedingungen sowie die genetische Beratung [3] …”

Genetisch bedingte Erkrankungen des Auges

“…Diese Erkrankungen umfassen eine große Gruppe klinisch und genetisch heterogener Krankheitsbilder, stationäre und progressive Erkrankungen, die sich aufgrund ihres Phänotyps (klinisches Erscheinungsbild) in primär periphere (Retinitis pigmentosa) und zentrale Netzhautdegenerationen (Makuladystrophien) einteilen lassen [28,75]. 3 Zapfensubsysteme (S-, M-bzw.…”