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Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure.
Arch Soc Esp Oftalmol (Engl Ed)
October 2022
Unidad de Genética, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Spain.
A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure.
View Article and Find Full Text PDFSevere ocular involvement in hereditary gelsolin amyloidosis.
Porto Biomed J
October 2021
Ophthalmology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9.
View Article and Find Full Text PDFA novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Hum Mutat
July 2021
Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.
View Article and Find Full Text PDFClinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel Variant p.Glu580Lys.
Int J Mol Sci
January 2021
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel variant p.
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