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Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene
  1. Lydia Bai-Tsin Ann1,
  2. Alessandro Abbouda2,
  3. Ricardo F Frausto1,
  4. Samira Huseynli2,
  5. Kishan Gupta1,
  6. Jorge L Alió2,3,
  7. Anthony J Aldave1
  1. 1Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California, USA
  2. 2Vissum, Instituto Oftalmológico de Alicante, Universidad Miguel Hernández, Alicante, Spain
  3. 3Division of Ophthalmology, Universidad Miguel Hernández, Alicante, Spain
  1. Correspondence to Anthony J Aldave, The Stein Eye Institute, 100 Stein Plaza, UCLA, Los Angeles, CA 90095-7003, USA; aldave{at}jsei.ucla.edu

Abstract

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.

  • Cornea
  • Genetics
  • Dystrophy

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