Whether pachychoroid macular diseases represent a true disease continuum remains unresolved. Shared choroidal features, including pachyvessels, choroidal hyperpermeability and venous outflow abnormalities as well as clinically reported transitions from pachychoroid pigment epitheliopathy/central serous chorioretinopathy (PPE/CSC) to pachychoroid neovasculopathy (PNV) and from PNV to pachychoroid aneurysmal type 1 choroidal neovascularization/polypoidal choroidal vasculopathy (PAT1/PCV) support a spectrum concept; however, the current level of evidence is low and largely based on clinical observations, retrospective cohorts and small case series with heterogeneous definitions, selected populations and usually without independent reading center assessment. Recent studies further strengthen the opposing standpoint: choroidal thickness alone is neither necessary nor sufficient, PNV likely includes different subtypes and PCV/PAT1 is etiologically heterogeneous. Epidemiological differences between classical CSC and classical PCV/PAT1 also argue against a simple linear single-disease model. Currently, a cautious, nonlinear spectrum model with possible but not obligatory progression pathways is therefore preferable to the assumption of one single disease evolving through fixed stages.
The differential diagnostic work-up of (early) infantile nystagmus depends largely on the presence of syndromic or neurological abnormalities, in addition to the child's age and ocular findings. In some cases, a careful medical history and physical examination alone are sufficient to establish a diagnosis. Electrophysiology, imaging, molecular genetics and metabolic diagnostics are further essential components of the neuropediatric part of the problem analysis. This paper aims to provide guidance on how to proceed in a way that is as efficient as possible and as gentle as possible on the child.
Morbus Stargardt (STGD1) is the most common autosomal recessive macular dystrophy and is caused by biallelic variants in the ABCA4 gene located on chromosome 1. More than 1200 disease-associated variants have been described, causing a broad phenotypic spectrum. The hallmark feature is a bilateral, typically slowly progressive visual impairment, although best-corrected visual acuity can be preserved for a long time in patients with foveal sparing. The disease is characterized by lipofuscin accumulation in the retinal pigment epithelium, manifesting as fundus flavimaculatus on funduscopic examination, outer retinal atrophy on optical coherence tomography (OCT) and a characteristic pattern on fundus autofluorescence imaging. While earlier classifications were primarily based on clinical and electrophysiological criteria, current approaches increasingly focus on genotype-phenotype correlations, which can also enable prognostic statements. Severe, early-onset disease courses are predominantly associated with loss of function variants, whereas certain genotypes have been linked to milder and later-onset manifestations. The differential diagnosis remains challenging due to considerable phenotypic overlap with other autosomal-dominant and autosomal-recessive macular dystrophies. Moreover, particularly in late-onset cases, differentiation from geographic atrophy secondary to age-related macular degeneration can be necessary.
Background Acting in the patient's best interest is the foundation of medical practice. Because medical interventions constitute bodily injury, they require justification. Actions that do not serve the patient's welfare or that cannot be substantiated on scientific grounds should be omitted. Objective How can a physician consciously and responsibly forgo diagnostic or therapeutic measures in the patient's interest? Methods Ethical, epistemic (i.e., knowledge-oriented and insight-oriented) and legal preconditions for the competence to refrain from diagnostics and treatment are examined as a framework for healthcare provision. Results The competence in medicine to choose wisely comprises the ability to recognize when screening, diagnostic procedures or treatment are no longer medically indicated or when treatment should be terminated and the ability to articulate, both professionally and humanely, why medical action is not the best option in a given case. This decision must be communicated appropriately to the patient, relatives and the interprofessional team. To do so, physicians need the sovereignty to withstand pressure to act (whether stemming from technology, the team, the institution or societal expectations). For making wise decisions in line with a medical virtue, a physician must set aside, among other things, personal economic interests, the fear-driven adaptation to a perceived high-risk liability environment combined with the desire for legal protection, the deeply socialized impulse to always act (actionism) and one's own convenience. Conclusion The ethically justified, equitable, resource-conscious, legally mandated, patient-centered and responsible contemporary medicine calls for a competence to refrain from action in every physician.
