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. 2000 Apr;84(4):390–394. doi: 10.1136/bjo.84.4.390

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

H Stewart 1, R Parveen 1, A Ridgway 1, R Bonshek 1, G Black 1
PMCID: PMC1723421  PMID: 10729296

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.



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Figure 1  .

Figure 1  

Figure 1  

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(A) Pedigree of family. Affected members shown in black and those contributing DNA marked with + symbol. (B) SSCP analysis of family. Lanes 1, 2, 3, 4, 7: affected. Lanes 5, 6, 8, 9, 10: unaffected family members. Lanes 11, 12, 13: unrelated control individuals. (C) Sequence analysis of the gelsolin gene (a) mutated showing a G to A transition at nucleotide 654, (b) normal.

Figure 2  .

Figure 2  

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Clinical photographs of cases. (A) Case 1, illustrating the patient's smooth brow, drooping face and lips, nasal prong, left tarsorrhaphy, and waxy skin. (B) Left eye of patient (case 1), illustrating previous tarsorrhaphy and full thickness graft. (C) Case 2, illustrating his smooth brow, drooping upper lids, and waxy skin. There is extensive scarring of the right eye. (D) Case 3, illustrating early coarsening of the facial features and a cranial neuropathy causing a smooth brow, drooping face, and full lower lip. (Photographs reproduced with permission of patients.)

Figure 3  .

Figure 3  

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(A) Photograph of the anterior cornea of case 1, before first penetrating keratoplasty. Lattice lines are seen centrally (arrow A).The patient has absent corneal sensation which has led to secondary infection and hypopyon formation (arrow B). (B) Photograph of slit lamp examination of case 3 illustrating stromal lattice deposits (arrow).

Figure 4  .

Figure 4  

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(A) Light microscopy of corneal button of case 1, stained with Congo red, under medium power. Small to moderate sized amyloid deposits are shown in the stroma, as well as above and below Bowman's layer. (B) Light microscopy of corneal button of case 1, stained with Congo red, under high power with cross polarisation. Typical birefringence of a subepithelial lattice dystrophy amyloid deposit is shown.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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