Two Cases of Reis-Bücklers Corneal Dystrophy (Granular Corneal Dystrophy Type III) Caused by Spontaneous Mutations in the TGFBI Gene

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

“…Paternity was confirmed by polymorphic microsatellite markers for case no 612 only. However, evidence for spontaneous mutations is increasingly being reported in TGFBI-associated dystrophies 25 26…”

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

“…608470). 7 While the daughter may be considered as the first de novo case of true granular corneal dystrophy we propose that the mild phenotype of the father suggests that it is actually he who represents the first case of an individual carrying a de novo postzygotic mutation in the BIGH3/TGFB1 gene.…”

“…Patients with dengue fever may develop various ophthalmic manifestations causing visual loss, including macular oedema, macular haemorrhage, retinal vasculitis, ''cotton-wool'' spots and optic disc swelling. [2][3][4][5][6][7][8] We report the use of multifocal electroretinography (mfERG) in the assessment of a patient with dengue fever-associated maculopathy in whom there were no clinical or angiographic abnormalities.…”

“…[2][3][4][5][6][7][8] The onset of visual symptoms usually coincides with the resolution of fever and the lowest point of thrombocytopenia. [6][7][8] In our patient and in previous reports, the interval between fever onset and ophthalmic symptoms was around 7 days. 2 6-8 It has been postulated that this time interval corresponds to the time of antibody formation, deposition of immune complexes or production of autoantibodies.…”

A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation

“…The characteristic clinical phenotype of each dystrophy typically allows unambiguous distinction between different corneal dystrophies and between dystrophic and non-dystrophic corneal disorders. However, cases of unilateral and markedly asymmetric dystrophic deposits have been reported,1 – 4 as have affected individuals without a family history who have been shown to possess spontaneous mutations in TGFBI 5. Additionally, significant inter- and even intra-familial phenotypic variability between individuals sharing the same TGFBI mutation have also been reported, challenging the ability of the clinician to rely upon the clinical phenotype to diagnose and classify such dystrophies 6.…”