PT - JOURNAL ARTICLE AU - Helen S Stewart AU - Rahat Parveen AU - Alan E Ridgway AU - Richard Bonshek AU - Graeme C M Black TI - Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family AID - 10.1136/bjo.84.4.390 DP - 2000 Apr 01 TA - British Journal of Ophthalmology PG - 390--394 VI - 84 IP - 4 4099 - http://bjo.bmj.com/content/84/4/390.short 4100 - http://bjo.bmj.com/content/84/4/390.full SO - Br J Ophthalmol2000 Apr 01; 84 AB - 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.