Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

نویسندگان

  • Tasha Y Tanhehco
  • David E Eifrig
  • Ivan R Schwab
  • Christopher J Rapuano
  • Gordon K Klintworth
چکیده

1. Shields JA, Shields CL, Ehya H, Eagle RC, De Potter P. Fine-needle aspiration biopsy of suspected intraocular tumors: the 1992 Urwick Lecture. Ophthalmology. 1993;100: 1677-1684. 2. Collaborative Ocular Melanoma Study Group. Accuracy of diagnosis of choroidal melanomas in the Collaborative Ocular Melanoma Study: COMS report No. 1. Arch Ophthalmol. 1990;108:1268-1273. 3. Schyberg E. Fine needle biopsy of orbital tumors [proceedings]. Acta Ophthalmol Suppl. 1975;125:11. 4. Jakobiec FA, Coleman DJ, Chattock A. Ultrasonically guided needle biopsy and cytologic diagnosis of solid intraocular tumors. Ophthalmology. 1979;86:1662-1681. 5. Rashleigh-Belcher HJ, Russell RC, Less WR. Cutaneous seeding of pancreatic carcinoma by fine-needle aspiration biopsy. Br J Radiol. 1986; 59:182-183. 6. Ryd W, Hagmar B, Eriksson O. Local tumour cell seeding by fine-needle aspiration biopsy: a semiquantitative study. Acta Pathol Microbiol Immunol Scand A. 1983;91:17-21. 7. Glasgow BJ, Brown HH, Zargoza AM, Foos RY. Quantification of tumour seeding from fine needle aspiration of ocular melanomas. Am J Ophthalmol. 1988;105:538-546. 8. Karcioglu ZA, Gordon RA, Karcioglu GL. Tumor seeding in ocular fine needle aspiration biopsy. Ophthalmology. 1985;92:1763-1767. 9. Engzell U, Esposti PL, Rubio C, Sigurdson A, Zajicek J. Investigation of tumour spread in connection with aspiration biopsy. Acta Radiol Ther Phys Biol. 1971;10:385-398. 10. Snell AC Jr. Heterotransplantation of tumors into various regions of the guinea-pig eye. Am J Ophthalmol. 1951;34:733-738.

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Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

OBJECTIVES To search for novel mutations that cause corneal stromal dystrophies and to confirm or revise the clinical diagnosis of patients with these mutations. PATIENTS Through review of the records of the Cogan Eye Pathology Laboratory at the Massachusetts Eye and Ear Infirmary, Boston, and of clinical records, we ascertained 14 unrelated patients with the clinical or histopathologic diagn...

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TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy

PURPOSE To analyze transforming growth factor beta-induced (TGFBI) gene mutations in a Chinese pedigree with Reis-Bücklers dystrophy (RBCD). METHODS In a four-generation Chinese family with Reis-Bücklers dystrophy, six members were patients and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polymerase chain ...

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Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

AIM To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD, also known as GCD3). METHODS In a five-generation Chinese family, eight members were identified with RBCD and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polym...

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A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review

Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was...

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TGFBI gene mutations in a Korean population with corneal dystrophy

PURPOSE To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene. METHODS In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologi...

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عنوان ژورنال:
  • Archives of ophthalmology

دوره 124 4  شماره 

صفحات  -

تاریخ انتشار 2006