Unknown

Dataset Information

0

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.


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.

SUBMITTER: Stewart HS 

PROVIDER: S-EPMC1723421 | biostudies-other | 2000 Apr

REPOSITORIES: biostudies-other

altmetric image

Publications

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Stewart H S HS   Parveen R R   Ridgway A E AE   Bonshek R R   Black G C GC  

The British journal of ophthalmology 20000401 4


<h4>Aims</h4>To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy.<h4>Methods</h4>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.<h4>Results</h4>Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in affected individuals. Numerous symptoms experienced by the patie  ...[more]

Similar Datasets

| S-EPMC3253538 | biostudies-literature
| S-EPMC2373796 | biostudies-literature
| S-EPMC5360766 | biostudies-literature
2022-02-28 | PXD006640 | Pride
| S-EPMC2970683 | biostudies-literature
| S-EPMC3309196 | biostudies-literature
| S-EPMC5963778 | biostudies-literature
| S-EPMC4866966 | biostudies-literature
| S-EPMC5649572 | biostudies-literature
| S-EPMC3080358 | biostudies-literature