Abstract：
OBJECTIVE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date.
METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed.
RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene.
CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.
METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed.
RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene.
CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.
摘要：
目的：提出临床，遗传,以及迄今为止受先天性基质角膜营养不良（CSCD）影响的第九个家庭的组织病理学特征。
方法：对一个西班牙家庭中12例受CSCD影响的患者的病史进行分析。视力（VA，十进制小数位数)，眼科检查和镜面显微镜检查。5只眼采用深前板层角膜移植术（DALK）治疗，和13只眼穿透性角膜移植术（PK）。在过去的两代中，进行了基因研究。
结果：大多数受影响的患者出生时有不透明的角膜，他们出生时角膜是透明的。生物显微镜显示白色弥漫性基质混浊，上皮未改变，导致不良的VA（从手部运动到0.4）。接受PK治疗的患者在235.3±101.4个月的随访时间内，术后平均VA为0.19±0.20，复发率为38％。接受DALK的患者在10.8±2.6个月的随访时间内，VA改善至0.17±0.11，无复发迹象。在后者中,大泡沫技术没有实现，所以进行了手动技术。遗传研究表明，核心蛋白聚糖基因外显子8的核苷酸962处存在1bp缺失的杂合。
结论：CSCD是一种罕见的实体，应尽可能由DALK处理，获得比PK更好的结果。密切监测受影响个人的儿童非常重要，因为CSCD可以在生命的早期发展。
方法：对一个西班牙家庭中12例受CSCD影响的患者的病史进行分析。视力（VA，十进制小数位数)，眼科检查和镜面显微镜检查。5只眼采用深前板层角膜移植术（DALK）治疗，和13只眼穿透性角膜移植术（PK）。在过去的两代中，进行了基因研究。
结果：大多数受影响的患者出生时有不透明的角膜，他们出生时角膜是透明的。生物显微镜显示白色弥漫性基质混浊，上皮未改变，导致不良的VA（从手部运动到0.4）。接受PK治疗的患者在235.3±101.4个月的随访时间内，术后平均VA为0.19±0.20，复发率为38％。接受DALK的患者在10.8±2.6个月的随访时间内，VA改善至0.17±0.11，无复发迹象。在后者中,大泡沫技术没有实现，所以进行了手动技术。遗传研究表明，核心蛋白聚糖基因外显子8的核苷酸962处存在1bp缺失的杂合。
结论：CSCD是一种罕见的实体，应尽可能由DALK处理，获得比PK更好的结果。密切监测受影响个人的儿童非常重要，因为CSCD可以在生命的早期发展。
