Primary Familial Amyloidosis of the Cornea

Stock, Emmelie; Kielar, Richard A.

doi:10.1016/0002-9394(76)90432-3

Cited by 31 publications

(8 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, the lesions in our patients did not have significant corneal vascularization or epithelial breakdown and involved the central interpalpebral area more than the periphery. The clinical characteristics of many of these patients have been reported previously (Buchi et al 1994;El Matri et al 1991;Kirk et al 1973;Li et al 1996;Mondino et al 1981;Stock and Kielar 1976).…”

Section: Clinical Description Of Patientsmentioning

confidence: 57%

“…Family 37011 showed a typical clinical presentation for GDLD (Stock and Kielar 1976). The disease was limited to the cornea and characterized by the deposition of amyloid beneath the corneal epithelium.…”

Section: Clinical Description Of Patientsmentioning

confidence: 99%

“…Repeated keratoplasties are needed for most patients because of recurrent disease (Lasram et al 1994). Most cases have been reported in Japanese (Akiya et al 1990(Akiya et al , 1991Ohnishi et al 1982;Shimazaki et al 1995;Takahashi et al 1985), although GDLD also occurs in Indian (Li et al 1996) and Tunisian (El Matri et al 1991;Weber and Ba- (Kirk et al 1973;Klintworth et al 1997;Stock and Kielar 1976).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

et al. 2002

View full text Add to dashboard Cite

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disease characterized by the deposition of amyloid beneath the corneal epithelium and by severely impaired visual acuity leading to blindness. Although gelatinous corneal dystrophy has previously been mapped to chromosome 1p and seems to be associated with mutations in the M1S1 gene, molecular genetic studies have been limited to Japanese patients. To investigate the cause of GDLD in patients with diverse ethnic backgrounds, we performed linkage analyses in eight unrelated GDLD families from India, USA, Europe, and Tunisia. In seven of these families, the disease locus mapped to a 16-cM interval on the short arm of chromosome 1 between markers D1S519 and D1S2835, a region including the M1S1 gene. In addition, a 1.2-kb fragment containing the entire coding region of M1S1 gene was sequenced in affected individuals. Seven novel mutations (M1R, 8-bp ins., Q118 E, V194 E, C119 S, 870delC, and 1117delA) were identified in six families and two unrelated individuals. No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. These findings demonstrate allelic and locus heterogeneity for GDLD.

show abstract

Section: Clinical Description Of Patientsmentioning

confidence: 57%

Section: Clinical Description Of Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

et al. 2002

View full text Add to dashboard Cite

show abstract

“…9,10,12,13,15,17,23 Most subjects studied have been of Japanese or Indian origin, although Tunisian, American and European cases have also been reported. 19, 24 Ren et al 12 were able to exclude linkage to M1S1 in a single large Caucasian pedigree, confirming locus heterogeneity. Lactoferrin, a promising candidate gene could also be excluded by linkage analysis in this family.…”

Section: Discussionmentioning

confidence: 88%

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene

Akhtar

Bron

Qin

et al. 2004

Eye

View full text Add to dashboard Cite

Aims Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autosomal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian child with GDLD who also exhibited global developmental delay. Methods Bilateral lamellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for light and electron microscopy, including immunoelectronmicroscopy. The coding region of the M1S1 gene was screened for mutations in the affected proband and available relatives, using DNA extracted from mouthwashes. Results Nodular deposits, which were present subepithelially and in the central superficial stroma, stained typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (big-h3), was present in the central superficial stroma, causing destruction of Bowman's layer and elevation of the thinned, degenerate epithelium. Around the deposit zone, the stroma exhibited large numbers of thick filamentous proteoglycan deposits. While the affected child was homozygous for a novel A1133 C singlenucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine substitution at position 173 of the M1S1 coding sequence, this polymorphism was also found at relatively high frequency in a sample of normal controls, enabling exclusion of the M1S1 gene as the disease locus. Conclusion Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeability of the superficial epithelial cells. An association with developmental delay has not been reported previously.

show abstract

“…Subsequently, isolated case re ports are found which describe localized in volvement of different structures, i.e. extra ocular muscles [7,17], cornea [10,15,30], iris [26], choriocapillaris [31], orbit [9,12,14,24] as well as more general alteration of ocular and extraocular tissues [6,32]. Some reviews of the literature and papers sum marize and classify the aspects of the ocular involvement in amyloid disease [2,5,14].…”

mentioning

confidence: 99%

Pathology of Ocular Tissues in Amyloidosis

Campos¹,

Melato²,

Manconi³

et al. 1980

Ophthalmologica

View full text Add to dashboard Cite

Ocular involvement was found in 29 autopsied individuals with generalized vascular amyloidosis. It may be present both in clinically primary and secondary amyloidosis. In the latter form the choroid and the sclera are particulary involved, whereas in the orbit the most frequently affected tissues in both forms are the extraocular muscles. However, in most cases amyloid deposits are localized in the vessels of the aterial circle of Zinn-Haller. The retina showed no involvement in 28 of 29 cases while optic nerve fibres never were affected. The optic nerve dural sheath was slightly involved in 8 cases.

show abstract

Primary Familial Amyloidosis of the Cornea

Cited by 31 publications

References 7 publications

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene

Pathology of Ocular Tissues in Amyloidosis

Contact Info

Product

Resources

About