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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotempor...
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Vol. 97. Issue 10.
Pages 583-586 (October 2022)
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Vol. 97. Issue 10.
Pages 583-586 (October 2022)
Short communication
Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure
Diagnóstico clínico y genético de un caso de síndrome de Meretoja e intervención mediante lifting frontotemporal
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J. Galindo-Boceroa,
Corresponding author
javiergalindobocero@hotmail.com

Corresponding author.
, I. García-Martínezb, M. Portillob, I. Hernando Aceroc, N. García-Gonzálezc
a Servicio de Oftalmología, Fundación Hospital de Jove, Gijón, Spain
b Servicio de Cirugía Plástica y Reparadora, Fundación Hospital de Jove, Gijón, Spain
c Unidad de Genética, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Spain
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Abstract

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. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome.

Keywords:
Lattice corneal dystrophy
Gelsolin
Frontotemporal lifting
Meretoja syndrome
Resumen

Un varón de 56 años con antecedentes familiares de distrofia corneal consulta por mala visión subjetiva. La biomicroscopía revela una distrofia estromal reticular bilateral y la inspección facial muestra signos de disfunción muscular, como ptosis de cejas, debilidad y descolgamiento de la musculatura frontal, piel redundante en frente e hiperelasticidad cutánea.

El paciente es remitido a Cirugía Plástica para valoración de la afectación muscular frontal, siendo intervenido mediante lifting frontotemporal. Por otro lado, se realiza estudio genético que confirma la variante patogénica c.640G>A (p.Asp214Asn) en el gen GSN, que codifica la gelsolina, mutación asociada con la amiloidosis familiar tipo finlandés o síndrome de Meretoja.

Palabras clave:
Distrofia corneal reticular
Gelsolina
Lifting frontotemporal
Síndrome de Meretoja

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