Atypical vortex pattern of corneal deposits in granular corneal dystrophy

被引:2
|
作者
Aldave, AJ
Yellore, VS
Hwang, DG
机构
[1] Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Ophthalmol, Cornea Serv, Los Angeles, CA 90095 USA
[2] Univ Calif San Francisco, Dept Ophthalmol, Cornea Serv, San Francisco, CA 94143 USA
关键词
granular corneal dystrophy; TGFB1; beta ig-h3; keratoepithelin; vortex keratopathy;
D O I
10.1097/00003226-200311000-00008
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Purpose: To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy. Methods: DNA from affected patients and unaffected relatives was isolated from buccal swabs, and TGFB1 mutation screening was performed. Results: The proband and an affected daughter demonstrated rays of deposits emanating from a point in the inferior cornea of each eye in a "sea fan" or vortex pattern. Screening all 17 exons of TGFB1 in the proband identified a single missense mutation (C1710T) in exon 12, consistent with the diagnosis of granular corneal dystrophy. The identical mutation was identified in the affected daughter. Conclusions: in spite of the strict phenotype-genotype correlation reported for the TGFB1-associated corneal dystrophies, atypical clinical findings may be produced by previously identified, conserved mutations. Key Words: granular corneal dystrophy, TGFB1, betaig-h3, keratoepithelin, vortex keratopathy.
引用
收藏
页码:754 / 759
页数:6
相关论文
共 50 条
  • [21] Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2
    Kim, Eung Kweon
    Lee, Hun
    Choi, Seung-il
    MOLECULAR BIOLOGY OF EYE DISEASE, 2015, 134 : 99 - 115
  • [22] Prevalence of Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy) in the Korean Population
    Lee, Jae Hwan
    Cristol, Stephen M.
    Kim, Woon Cho
    Chung, Eui Sang
    Tchah, Hungwon
    Kim, Man Soo
    Nam, Chung Mo
    Cho, Hyun-Soo
    Kim, Eung Kweon
    OPHTHALMIC EPIDEMIOLOGY, 2010, 17 (03) : 160 - 165
  • [23] Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK
    Lee, Jae Hwan
    Stulting, R. Doyle
    Lee, Dong Ho
    Lee, Christopher Seungkyu
    Kim, Woon Cho
    Kim, Eung Kweon
    JOURNAL OF REFRACTIVE SURGERY, 2008, 24 (01) : 39 - 45
  • [24] Estimating the Prevalence of Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy) in Korea
    Cristol, S. M.
    Lee, J. H.
    Kim, W. C.
    Chung, E. S.
    Tchah, H.
    Kim, M. S.
    Nam, C. M.
    Cho, H. -S.
    Kim, E. K.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [25] Combined granular lattice dystrophy (Avellino corneal dystrophy)
    Kennedy, SM
    McNamara, M
    Hillery, M
    Hurley, C
    Collum, LMT
    Giles, S
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1996, 80 (05) : 489 - 490
  • [26] Novels mutations in the BIG-H3 gene. Atypical granular corneal dystrophy and lattice corneal dystrophy type IIIA.
    Dighiero, P
    Valleix, S
    Ellies, P
    D'Hermies, F
    Delpech, M
    Savoldelli, M
    Legeais, JM
    Renard, G
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2000, 41 (04) : S267 - S267
  • [27] Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration?
    Khan, JC
    Shuttleworth, GN
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2000, 84 (10) : 1205 - 1206
  • [28] Differences in corneal epithelium in patients with diagnosed macular and granular corneal dystrophy
    Smedowski, A.
    Wylegala, E.
    Wojcik, L.
    ACTA OPHTHALMOLOGICA, 2013, 91
  • [29] Electrolysis for corneal opacities in a young patient with superficial variant of granular corneal dystrophy (Reis-Bucklers corneal dystrophy)
    Kamoi, M
    Mashima, Y
    Kawashima, M
    Tsubota, K
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2005, 139 (06) : 1139 - 1140
  • [30] CLINICALLY ATYPICAL GRANULAR CORNEAL-DYSTROPHY WITH PATHOLOGIC FEATURES OF LATTICE-LIKE AMYLOID DEPOSITS - A STUDY OF 3 FAMILIES
    FOLBERG, R
    ALFONSO, E
    CROXATTO, JO
    DRIEZEN, NG
    PANJWANI, N
    LAIBSON, PR
    BORUCHOFF, SA
    BAUM, J
    MALBRAN, ES
    FERNANDEZMEIJIDE, R
    MORRISON, JA
    BERNARDINO, VB
    ARBIZO, VV
    ALBERT, DM
    OPHTHALMOLOGY, 1988, 95 (01) : 46 - 51