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Corneal Dystrophy Caused by a Novel Mutation of the TGFBI Gene: A Case Report
Published in Gilles Grateau, Robert A. Kyle, Martha Skinner, Amyloid and Amyloidosis, 2004
B. Stix, J. Rüschoff, A. Roessner, C. Röcken
Corneal dystrophy causes visual impairment by interfering with corneal transparency and is subdivided into the granular and the lattice type of corneal dystrophy. The term lattice corneal dystrophy (LCD) contains several forms of disorders, all of which are characterised by the accumulation of amyloid within the cornea. LCD I is the classical form of the disease with an onset of symptoms (epithelial erosions and visual difficulties) in the first decade and is inherited in an autosomal dominant manner. Lattice corneal dystrophy types II, III, and IIIA represent additional variations of LCD with a distinct mode of inheritance and/or clinical features. In all cases, a keratoplasty is frequently required for visual rehabilitation.
Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy
Published in Ophthalmic Genetics, 2022
Charlene H. Choo, Doug D. Chung, Kaitlyn V. Ledwitch, Alexa Kassels, Jens Meiler, Anthony J. Aldave
Lattice corneal dystrophy I (LCD I) (Online Mendelian Inheritance in Man [OMIM] 122200) is characterized by bilateral and symmetric, lattice-like deposits in the central cornea that extend into the anterior stroma (1). Patients with LCD I usually present with visual symptoms in childhood and rapidly progress to visual impairment in the second or third decade of life (2). LCD is associated with mutations in the transforming growth factor-TGFBI) gene, in which mutations are associated with other phenotypically distinct corneal dystrophies, such as Reis Bücklers corneal dystrophy (RBCD), Thiel-Behnke corneal dystrophy (TBCD), and granular corneal dystrophy (GCD) types I and II (3). According to the Human Gene Mutation Database, 70 distinct mutations in TGFBI have been identified and associated with what are known as TGFBI corneal dystrophies, of which 41 mutations are associated with LCD I and variant forms of LCD (4).
Severe elastolysis in hereditary gelsolin (AGel) amyloidosis
Published in Amyloid, 2020
Susanna Koskelainen, Fang Zhao, Hannu Kalimo, Marc Baumann, Sari Kiuru-Enari
Patient material included different types of samples from 35 patients with AGel amyloidosis (17 females and 18 males, mean age 60 years, range 35–86 years), while the control material consisted of different types of samples from 40 non-AGel-subjects (21 females and 19 males, mean age 53 years, range 18–78 years). All the samples were collected at Helsinki University Hospital, with the patients’ informed consent and the approval of the ethical committee of Helsinki University Hospital. Diagnosis of AGel amyloidosis was based on the typical clinical triad of lattice corneal dystrophy type 2, bilateral progressive facial paresis, and cutis laxa, along with family history (first degree relative/relatives with similar symptoms), and/or demonstration of the c.640G>A GSN mutation.
Multimodal retinal imaging of familial amyloid polyneuropathy
Published in Ophthalmic Genetics, 2019
Marta Latasiewicz, Anna Sala-Puigdollers, Andrea Gonzalez-Ventosa, Elena Milla, Alfredo Adan Civera
Amyloidosis is a group of conditions in which normally soluble proteins, as a result of defective folding, are deposited in the extracellular space of various tissues and organs causing their change in structure and dysfunction. Amyloidosis is classified according to the area of amyloid deposition as localized or systemic (generalized), and as primary or secondary depending on the relation to other, usually chronic inflammatory or proliferative conditions. Primary systemic amyloidosis occurs in acquired or hereditary (familial) forms. The two known hereditary forms with characteristic ocular involvement include the Meretoja syndrome with gelsolin deposition causing lattice corneal dystrophy type 2, and the transthyretin-related familial amyloid polyneuropathy (FAP) (1).