Variant lattice corneal dystrophy associated with compound heterozygous mutations in theTGFBIgene
Autor: | Lydia Ann, Alessandro Abbouda, Kishan Gupta, Jorge L. Alió, Ricardo F Frausto, Anthony J. Aldave, Samira Huseynli |
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Rok vydání: | 2016 |
Předmět: |
Adult
0301 basic medicine Pathology medicine.medical_specialty genetic structures Photophobia medicine.disease_cause Compound heterozygosity Cornea 03 medical and health sciences Cellular and Molecular Neuroscience Exon 0302 clinical medicine Humans Medicine Missense mutation Genetic Association Studies Corneal Dystrophies Hereditary Mutation Microscopy Confocal business.industry Dystrophy medicine.disease eye diseases Sensory Systems Pedigree Ophthalmology Phenotype 030104 developmental biology Disease Progression 030221 ophthalmology & optometry Lattice corneal dystrophy Female sense organs medicine.symptom business TGFBI |
Zdroj: | British Journal of Ophthalmology. 101:509-513 |
ISSN: | 1468-2079 0007-1161 |
Popis: | Background/Aims To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced ( TGFBI ) gene. Methods Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening. Results A 42-year-old woman presented with progressive photophobia and decreased visual acuity in both eyes. Slit lamp examination demonstrated punctate and linear branching opacities in the mid and posterior corneal stroma, corresponding to hyper-reflective opacities noted on IVCM and amyloid deposition noted on histopathological examination of an excised corneal button. TGFBI screening revealed two previously reported heterozygous missense mutations: c.337G>A (p.(Val113Ile)) in exon 4 and c.1673T>C (p.(Leu558Pro)) in exon 12. Screening of an affected sibling with a similar phenotype revealed that she was also heterozygous for both mutations, while screening of another sibling with punctate but not linear stromal opacities revealed that she was heterozygous for only the p.(Leu558Pro) mutation. Conclusions The p.(Val113Ile) mutation results in an alteration of the atypical LCD phenotype associated with the p.(Leu558Pro) mutation. This represents only the second report of the alteration of the phenotype of a TGFBI dystrophy by a second, non-homozygous pathogenic mutation, and thus provides insight into the phenotype-genotype correlation of the TGFBI dystrophies. |
Databáze: | OpenAIRE |
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