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Background: Over the past years, a significant progress in genetic, functional and imaging diagnostics in hereditary retinal diseases has been made. Optical coherence tomography (OCT) as well as fundus autofluorescence (FAF) allow for high-resolution, non-invasive imaging - from various perspectives - of retinal and choroidal layers of the posterior fundus. Both techniques have gained more and more significance in the diagnosis of hereditary retinal diseases., Patients/methods: Of all patients presented in this review, extensive family history was taken and a clinical ophthalmological examination performed. OCT scans as well as FAF images were acquired and compared to results of other functional and molecular genetic tests in the context of each disease., Results: The presented cases in this review addressing hereditary retinal diseases (Best's disease, Stargardt's disease, cone-rod dystrophy, retinitis pigmentosa, achromatopsia, and X-linked retinoschisis) show the significance of ophthalmic imaging (OCT + FAF) for a targeted diagnosis of hereditary retinal diseases., Conclusion: The described imaging techniques (OCT + FAF) are becoming more and more important in the diagnosis of hereditary retinal diseases. Due to increasing availability of the devices, earlier detection of typical morphological changes not seen in clinical fundoscopy is feasible., (Georg Thieme Verlag KG Stuttgart · New York.)

Stargardt's disease is an autosomal recessive inherited juvenile macular degeneration and at present no acknowledged science-based therapy is available for these patients. Recently, reports have been published on the effectiveness of electrical stimulation in experimental animal models and in patients with neurodegenerative ocular disease, particularly retinitis pigmentosa. This study included 12 patients with Stargardt's disease who were randomized into one of three groups (n = 4) with 0% (sham), 66% or 150% of the individual electrically stimulated phosphene threshold. Outcome measures of the study were safety and efficacy of transcorneal electrical stimulation (TES) with DTL electrodes in subjective and objective parameters of visual function under therapy. In general TES was well tolerated and no adverse or serious events were noted. Neither Ganzfeld, multifocal ERG, OCT nor visual field testing showed statistically significant changes in any group.

Optical coherence tomography (OCT) is a non-invasive imaging technique which provides the possibility to record transpupillarily cross-sectional scans of the retina and the optic disc. The exact localisation and reproducibility of the scans are ensured by the combination with a scanning laser ophthalmoscope. The outcome of this is the possibility to collect additional morphological data for the diagnosis of neuroophthalmological diseases particularly in children. OCT data allow for the differentiation of macular diseases from optic nerve pathology in unexplained visual loss. Various forms of optic neuropathies can be distinguished and quantitatively characterised with regard to their severity and clinical course. Serial assessment of papilloedema or optic atrophy over time gives valuable objective information about the prognosis of the underlying disease and the therapy planning., (© Georg Thieme Verlag KG Stuttgart · New York.)