18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation and may ultimately lead to novel therapeutic approaches. Over the past 18 years, our DNA diagnostics unit has been performing genetic testing on patients suspected of having IRD or ION, using state-of-the-art mutation detection technologies that are continuously updated.

Interpretation of SD-OCT imaging data in real-life conditions versus standardized reading centre analysis in eyes with diabetic macular oedema or macular oedema secondary to retinal vein occlusion: 24-month follow-up of the ORCA study.

Purpose: As part of the prospective, non-interventional OCEAN study, the ORCA module evaluated physicians' spectral domain optical coherence tomography (SD-OCT) image interpretations in the treatment of diabetic macular oedema (DME) or macular oedema (ME) secondary to retinal vein occlusion (RVO).

Methods: Presence of intraretinal fluid (IRF) and/or subretinal fluid (SRF) was evaluated independently by physicians and reading centres (RCs) on 1612 SD-OCT scans of 133 patients diagnosed with either DME or ME secondary to RVO. Agreement between physicians and RCs was calculated for both cohorts individually and as a combined ME cohort.

[Opticopathies in the differential diagnosis of retinal diseases - part 1].

Due to the close anatomical, functional and trophic relationships between the optic nerve and retina, a wide variety of diseases affecting both structures have reciprocal effects on each other, which must be considered in the differential diagnosis to avoid misdiagnosis. Therefore, it is essential to assess pathological changes in both structures in context to differentiate the type and location of the primary lesion from its consequences, as well as to correctly classify coincidences and disease-specific lesion patterns in both organ components.This article highlights the typical symptom constellations and lesion patterns of optic neuropathies and retinopathies.

[Opticopathies in the differential diagnosis of retinal diseases - part 2].

Due to the close anatomical, functional and trophic relationships between the optic nerve and retina, a wide variety of diseases affecting both structures have reciprocal effects on each other, which must be considered in the differential diagnosis to avoid misdiagnosis. Therefore, it is essential to assess pathological changes in both structures in context to differentiate the type and location of the primary lesion from its consequences, as well as to correctly classify coincidences and disease-specific lesion patterns in both organ components.This article highlights the typical symptom constellations and lesion patterns of optic neuropathies and retinopathies.