Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy.
Caio Brenno AbreuBárbara Flores Culau MerloVinícius da Silva VarandasJuliana de Sá Freire Medrado DiasPublished in: European journal of ophthalmology (2024)
Common ocular and neurological manifestations validated AGel amyloidosis diagnoses, reinforcing its hereditary basis. Neurological symptoms highlighted the disorder's impact on various organ systems, while skin abnormalities contributed to ocular discomfort. Variable ocular involvement emphasized the disorder's heterogeneity. These patients emphasize hereditary gelsolin amyloidosis's clinical diversity and suggest potential environmental influences on disease expression. Genetic confirmation and confocal microscopy findings reaffirm the genetic basis while raising questions about assessing systemic disease severity, necessitating further investigation in larger cohorts. Ophthalmologists' specialized care is crucial for managing ocular symptoms, given the absence of a universal cure.
Keyphrases
- end stage renal disease
- optic nerve
- palliative care
- multiple myeloma
- ejection fraction
- genome wide
- healthcare
- newly diagnosed
- chronic kidney disease
- poor prognosis
- human health
- prognostic factors
- copy number
- risk assessment
- quality improvement
- soft tissue
- patient reported outcomes
- pain management
- cerebral ischemia
- depressive symptoms
- optical coherence tomography
- gene expression
- climate change
- life cycle