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Original Article
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family
  1. Helen S Stewarta,b,
  2. Rahat Parveena,
  3. Alan E Ridgwayc,
  4. Richard Bonshekc,d,
  5. Graeme C M Blacka,c
  1. aDepartment of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, bSchool of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, cManchester Royal Eye Hospital, Manchester M13 9WH, dDepartment of Pathological Sciences, University of Manchester, Manchester M13 9PT
  1. Graeme C M Black

Abstract

AIMS To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy.

METHODS Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken.

RESULTS Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in affected individuals. Numerous symptoms experienced by the patients were attributable to this mutation.

CONCLUSION A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. This is the first case of amyloidosis type V described in the UK. This emphasises the importance of recognition of the extraocular manifestations of eye disease both in the diagnosis and management of the patient. In addition, these findings can help molecular geneticists in their search for disease-causing mutations.

  • lattice corneal dystrophy
  • amyloidosis V
  • familial amyloidosis
  • gelsolin

https://doi.org/10.1136/bjo.84.4.390

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