Kellner, U. and Kellner, S. and Renner, A. B. and Fiebig, B. S. and Weinitz, S. and Weber, B. H. F. (2009) Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 226 (12). pp. 999-1011. ISSN 0023-2165,
Full text not available from this repository. (Request a copy)Abstract
Background: Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult. The purpose of the current paper is to provide guidelines for an effective diagnostic approach. Methods: A literature search was carried out and our own data on clinical (n = 3200) and molecular genetic (n = 4050) diagnosis of patients with retinal dystrophies were evaluated. Results: For an early diagnosis it is of importance to include inherited retinal dystrophies in the differential diagnosis of unexplained Visual disturbances. The most important clinical test is the full-field electroretinogram (ERG), which allows detection or exclusion of generalised retinal dystrophies. If the full-field ERG is normal, a multifocal ERG will distinguish macular dystrophies. Fundus autofluorescence, near-infrared autofluorescence and high resolution optical coherence tomography improve the early diagnosis because morphological alterations can be detected prior to their ophthalmoscopic visibility. In addition, these non-invasive imaging techniques reveal new phenomena which are important for the differential diagnosis and follow-up of retinal dystrophies as well as for an improved understanding of their pathogenesis. Routine molecular genetic diagnosis is available for an increasing number of retinal dystrophies. A succinct clinical diagnosis is a prerequisite to allow selection of the gene(s) to be analysed. If genetic testing is indicated, a human geneticist should be involved for counselling of the patient and possibly further family members and initiation of the necessary steps for DNA testing. Conclusion: The combination of electrophysiological testing, retinal imaging and molecular genetic analysis allows a differentiated diagnosis of inherited retinal dystrophies and an individual counselling of patients. If inherited retinal dystrophies are suspected, a detailed examination in a retinal centre specialised on inherited retinal dystrophies is recommended.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | VITELLIFORM MACULAR DYSTROPHY; OPTICAL COHERENCE TOMOGRAPHY; CONE-ROD DYSTROPHY; HEREDITARY RETINOCHOROIDAL DYSTROPHIES; LINKED CONGENITAL RETINOSCHISIS; TERM-FOLLOW-UP; FUNDUS AUTOFLUORESCENCE; RETINITIS-PIGMENTOSA; CLINICAL FINDINGS; BESTS-DISEASE; retinal dystrophy; electrophysiology; genetics; fundus autofluorescence; optical coherence tomography |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Aug 2020 09:29 |
| Last Modified: | 31 Aug 2020 09:29 |
| URI: | https://pred.uni-regensburg.de/id/eprint/28064 |
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