Kattan Jaffer M, Serna-Ojeda Juan Carlos, Sharma Anushree, Kim Eung K, Ramirez-Miranda Arturo, Cruz-Aguilar Marisa, Cervantes Aleck E, Frausto Ricardo F, Zenteno Juan Carlos, Graue-Hernandez Enrique O, Aldave Anthony J
*Stein Eye Institute, UCLA, Los Angeles, CA; †Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; ‡Department of Ophthalmology, Yonsei University, Seoul, Korea; §Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; and ¶Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.
Cornea. 2017 Feb;36(2):210-216. doi: 10.1097/ICO.0000000000001045.
To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).
A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed.
Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the 8 affected individuals in the Mexican family and 4 of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a "sea fan" or vortex pattern of superficial stromal corneal deposits originating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation [p.(Arg555Trp)] in exon 12, confirming the diagnosis of GCD1.
Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium.
描述两个无血缘关系的家族，其中多个成员表现出一种较少被认识到的角膜沉积物涡状模式，在转化生长因子β诱导基因（TGFBI）中鉴定出p.(Arg555Trp)突变后，确诊为1型颗粒状角膜营养不良（GCD1）。
对来自两个家族的个体进行裂隙灯检查，一个家族为墨西哥裔，另一个家族为意大利裔。从受影响个体及其未受影响的亲属中提取DNA后，进行TGFBI筛查。
墨西哥家族的20名个体中有8名，意大利家族的55名个体中有20名表现出角膜基质混浊。墨西哥家族的8名受影响个体中有7名，意大利家族的20名受影响个体中有4名表现出一种表型，其特征为角膜浅层基质沉积物呈“海扇”或涡状模式，起源于角膜下方。对两个家族的TGFBI筛查均显示外显子12中有一个杂合错义突变[p.(Arg555Trp)]，确诊为GCD1。
我们的研究结果表明，GCD1可能表现为前基质沉积物的涡状模式。尽管这种营养不良性沉积物模式未被临床医生识别为GCD1的典型表型，但它与角膜上皮产生的大多数TGFBI蛋白是一致的。
