Literature DB >> 17893542

Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment.

Jong Wook Moon1, Sun Woong Kim, Tae-im Kim, Stephen M Cristol, Eui Sang Chung, Eung Kweon Kim.   

Abstract

PURPOSE: To describe the clinical features of homozygous granular corneal dystrophy type II (GCDII) with age and with several kinds of treatment in 18 homozygous patients in several different conditions.
METHODS: Eighteen homozygous GCDII patients, confirmed with DNA analysis, of 13 families were enrolled. Their clinical features that include age at detection by parents, visual acuity, and disease progression were evaluated. We also studied the recurrence patterns for the 13 patients who underwent phototherapeutic keratectomy, penetrating keratoplasty, lamellar keratoplasty, or deep lamellar keratoplasty.
RESULTS: The age at detection by the parents ranged from 3 to 5 years; visual loss begins in childhood with progression into the 20s. All of the patients who had undergone surgeries acquired better vision immediately after surgery. Corneal deposits reappeared soon after treatments. Recurrences became progressively more rapid and severe with treatments.
CONCLUSIONS: The clinical features of homozygous GCDII are characterized by a severe granular type of corneal dystrophy with an early onset and rapid progression. After surgical treatment, recurrence is rapid and severe.

Entities:  

Mesh:

Substances:

Year:  2007        PMID: 17893542     DOI: 10.1097/ICO.0b013e3181484013

Source DB:  PubMed          Journal:  Cornea        ISSN: 0277-3740            Impact factor:   2.651


  13 in total

1.  Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Authors:  Ya-nan Huo; Yu-feng Yao; Ping Yu
Journal:  J Zhejiang Univ Sci B       Date:  2011-09       Impact factor: 3.066

2.  Multiple excimer laser phototherapeutic keratectomies for Avellino corneal dystrophy: a case report.

Authors:  Chihiro Koiwa; Satoru Nakatani; Takenori Inomata; Masahiro Yamaguchi; Satoshi Iwamoto; Akira Murakami
Journal:  Int J Ophthalmol       Date:  2020-05-18       Impact factor: 1.779

3.  TGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell line.

Authors:  Vivek S Yellore; Sylvia A Rayner; Anthony J Aldave
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-02-09       Impact factor: 4.799

4.  Altered mitochondrial function in type 2 granular corneal dystrophy.

Authors:  Tae-im Kim; Hanna Kim; Doo Jae Lee; Seung-Il Choi; Sang Won Kang; Eung Kweon Kim
Journal:  Am J Pathol       Date:  2011-05-31       Impact factor: 4.307

5.  Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp.

Authors:  Dhara A Patel; Shu-Hong Chang; George J Harocopos; Smita C Vora; Diep Huu Thang; Andrew J W Huang
Journal:  Cornea       Date:  2010-11       Impact factor: 2.651

6.  Decreased catalase expression and increased susceptibility to oxidative stress in primary cultured corneal fibroblasts from patients with granular corneal dystrophy type II.

Authors:  Seung-il Choi; Tae-im Kim; Kyu Seo Kim; Bong-Yoon Kim; So-yeon Ahn; Hyun-ju Cho; Hyung Keun Lee; Hyun-Soo Cho; Eung Kweon Kim
Journal:  Am J Pathol       Date:  2009-06-04       Impact factor: 4.307

Review 7.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651

8.  Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.

Authors:  Jong Eun Park; Sun Ae Yun; Eun Youn Roh; Jong Hyun Yoon; Sue Shin; Chang-Seok Ki
Journal:  Mol Vis       Date:  2021-05-08       Impact factor: 2.367

9.  Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Authors:  Anna K Nowińska; Edward Wylegala; Dominika A Janiszewska; Dariusz Dobrowolski; Pasquale Aragona; Anna M Roszkowska; Domenico Puzzolo
Journal:  Mol Vis       Date:  2011-08-30       Impact factor: 2.367

10.  Surgical outcomes of re-excimer laser phototherapeutic keratectomy (re-PTK).

Authors:  Osamu Hieda; Chie Sotozono; Yo Nakamura; Koichi Wakimasu; Shigeru Kinoshita
Journal:  Sci Rep       Date:  2021-06-01       Impact factor: 4.379

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.