Hilmar Tillack

Morphology and functional characteristics in adult vitelliform macular dystrophy.

Purpose: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). Methods: The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) were evaluated retrospectively regarding visual acuity, color vision, perimetry, retinal pigment epithelium (RPE) autofluorescence, fluorescein angiography, electro-oculography, full-field and multifocal electroretinography, and molecular genetic evaluation of the VMD2 and RDS/peripherin genes. Results: The mean age of subjects was 54.6 years. Visual loss was variable (median, 0.6; range, 1.25–0.05). Color vision and visual field were normal in about half of the patients but presented defects with high variability in the remaining patients. Autofluorescence findings showed increased fluorescence within the foveal yellow lesion in 76%. In the majority of eyes, the amplitude of the 30 Hz flicker response of the full-field electroretinogram (72%) and the central P1 amplitude of the multifocal electroretinogram (63%) were reduced. Mutational analyses revealed a potentially disease-associated mutation in the RDS/peripherin gene in one patient. Conclusion: AVMD is characterized by late onset, slow progression, good prognosis, and high variability of morphologic and functional abnormalities resulting frequently in misdiagnosis. Autofluorescence findings indicate lipofuscin accumulation in the yellow lesion. Electroretinography revealed a generalized cone system dysfunction with increasing severity toward the fovea.

Hereditäre Netzhaut-Aderhaut-Dystrophien

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.ZusammenfassungDie hereditären Netzhaut-Aderhaut-Dystrophien bezeichnen eine heterogene Gruppe von Erkrankungen, die mit einem progredienten Verlust von Visus oder Gesichtsfeld einhergehen und sich in fast jedem Lebensalter manifestieren können. Die Grundlagen der retinalen Physiologie und Pathophysiologie, der Diagnostik, der Therapie und der Patientenbetreuung werden dargestellt. Hereditäre Netzhautdystrophien sind in der Regel monogene Erkrankungen. Die Diagnosestellung beruht auf der kombinierten Beurteilung von Anamnese und den Ergebnissen morphologischer, elektrophysiologischer, psychophysischer und molekulargenetischer Untersuchungen. Eine detaillierte Differenzialdiagnose und Langzeitbeobachtung sind für die Patientenbetreuung und für die Entwicklung neuer Therapieverfahren wichtig. Derzeit sind die therapeutischen Möglichkeiten begrenzt. Wesentliche augenärztliche Aufgaben sind daher die Anpassung optischer Hilfsmittel und die adäquate Beratung von Patient und Familie.AbstractHereditary 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.

[Hereditary retinochoroidal dystrophies. Part 2: differential diagnosis].

ZusammenfassungEine einheitliche Nomenklatur für die Vielfalt der hereditären Netzhaut-Aderhaut-Dystrophien existiert nicht. Die Namensgebung erfolgte entweder nach dem ophthalmoskopischen Bild oder aufgrund histologischer, elektrophysiologischer oder genetischer Befunde. Eine exaktere Definition von Krankheitsnamen ist bei zunehmender Kenntnis der molekulargenetischen Hintergründe zu erwarten. Unsere praxisnahe Einteilung fasst Erkrankungen ähnlicher Symptomatik zusammen. So lassen sich generalisierte Dystrophien, welche die gesamte Netzhaut betreffen, von regional begrenzten Dystrophien abgrenzen. Generalisierte Dystrophien können in der Peripherie oder am hinteren Pol beginnen. Regional begrenzte Dystrophien unterteilen sich in eine Vielzahl von Makuladystrophien und die peripher begrenzte dominante Vitreoretinochoroidopathie. Differenzialdiagnostisch wichtig ist die Abgrenzung von zusätzlichen Organerkrankungen im Rahmen von Syndromen, von hereditären stationären Netzhautfunktionsstörungen und anderen hereditären oder erworbenen Netzhauterkrankungen. Die vergleichende Darstellung umfasst Hinweise für häufige differenzialdiagnostische Probleme.AbstractA generally accepted classification for inherited retinochoroidal dystrophies does not exist. The names given to certain disorders are either based on ophthalmoscopic findings, or on histologic, electrophysiologic and genetic findings. Future research on the molecular genetic background will result in better definition of clinical entities. The purpose of this project is to outline a practical approach to inherited retinochoroidal dystrophies. For this reason, disorders with similar clinical symptoms are grouped together. Generalized retinochoroidal dystrophies affecting all retinal areas can be distinguished from regional dystrophies. Generalized dystrophies can be subdivided into those with peripheral onset, usually associated with initial rod function loss (night blindness, peripheral field loss: e.g. retinitis pigmentosa, choroideremia) and those with central onset associated with cone function loss (visual acuity loss, central scotoma, color vision deficits: e.g. cone or cone-rod dystrophies). Regionally limited dystrophies include the multitude of macular dystrophies and the autosomal dominant vitreoretinochoroidopathy, which remains limited to the periphery. It is important for a differential diagnosis to exclude involvement of other organ systems in syndromic disorders. Stationary inherited retinal dysfunction (e.g. monochromatism, congenital stationary night blindness) and other inherited or acquired diseases have to be excluded as well. Guidelines for differential diagnosis are presented.

Adäquate klinische Diagnostik der adulten vitelliformen Makuladystrophie

BACKGROUND Adult vitelliform macular dystrophy (AVMD) was first described in 1974 (Gass) but is still often misdiagnosed. Large studies using modern morphological and functional diagnostic methods do not exist. PATIENTS AND METHODS The records of 67 consecutive AVMD patients (1994-2003) were reviewed regarding color vision, perimetry, RPE autofluorescence, fluorescein angiography, EOG, ERG, and mfERG. RESULTS The mean age was 54.8 years. Symptoms, visual loss, color vision deficits, and visual field defects were highly variable. Autofluorescence was increased centrally in 77% of the eyes. In the ERG, the 30 Hz flicker response was reduced in 71% of the eyes. MfERGs showed a marked central amplitude reduction in 62% of the eyes and a continual normalization of the P1 amplitude towards the periphery. CONCLUSION The enhanced autofluorescence indicates increased lipofuscin in the vitelliform lesions. The electroretinographic recordings reveal a moderate generalized cone dysfunction with increased severity towards the fovea. Ophthalmoscopy, autofluorescence, and recording of mfERG are prerequisites to diagnose AVMD correctly.

Clinical diagnostic prerequisites for adult vitelliform macular dystrophy

BACKGROUND Adult vitelliform macular dystrophy (AVMD) was first described in 1974 (Gass) but is still often misdiagnosed. Large studies using modern morphological and functional diagnostic methods do not exist. PATIENTS AND METHODS The records of 67 consecutive AVMD patients (1994-2003) were reviewed regarding color vision, perimetry, RPE autofluorescence, fluorescein angiography, EOG, ERG, and mfERG. RESULTS The mean age was 54.8 years. Symptoms, visual loss, color vision deficits, and visual field defects were highly variable. Autofluorescence was increased centrally in 77% of the eyes. In the ERG, the 30 Hz flicker response was reduced in 71% of the eyes. MfERGs showed a marked central amplitude reduction in 62% of the eyes and a continual normalization of the P1 amplitude towards the periphery. CONCLUSION The enhanced autofluorescence indicates increased lipofuscin in the vitelliform lesions. The electroretinographic recordings reveal a moderate generalized cone dysfunction with increased severity towards the fovea. Ophthalmoscopy, autofluorescence, and recording of mfERG are prerequisites to diagnose AVMD correctly.

Adquate klinische Diagnostik der adulten vitelliformen Makuladystrophie@@@Clinical diagnostic prerequisites for adult vitelliform macular dystrophy

BACKGROUND Adult vitelliform macular dystrophy (AVMD) was first described in 1974 (Gass) but is still often misdiagnosed. Large studies using modern morphological and functional diagnostic methods do not exist. PATIENTS AND METHODS The records of 67 consecutive AVMD patients (1994-2003) were reviewed regarding color vision, perimetry, RPE autofluorescence, fluorescein angiography, EOG, ERG, and mfERG. RESULTS The mean age was 54.8 years. Symptoms, visual loss, color vision deficits, and visual field defects were highly variable. Autofluorescence was increased centrally in 77% of the eyes. In the ERG, the 30 Hz flicker response was reduced in 71% of the eyes. MfERGs showed a marked central amplitude reduction in 62% of the eyes and a continual normalization of the P1 amplitude towards the periphery. CONCLUSION The enhanced autofluorescence indicates increased lipofuscin in the vitelliform lesions. The electroretinographic recordings reveal a moderate generalized cone dysfunction with increased severity towards the fovea. Ophthalmoscopy, autofluorescence, and recording of mfERG are prerequisites to diagnose AVMD correctly.