Diagnostics and Prediction of Glaucoma in Patients with Familial Congenital Iris Hypoplasia

• 作者: Andrey Shchuko Tatiana Iureva Yulia Pyatova
• 来源期刊: 眼科学期刊(英文)
• 学科: 医学
• 关键词: GLAUCOMA Megalocornea CONGENITAL Mesodermal IRIS ATROPHY Goniodysgenesis
• 年，卷（期）: ykxqkyw_2015,（3）
• 页码范围: 115-123
• 页数: 9页
• 分类号: R73

摘要

Purpose: To identify the clinical features of the syndrome Frank-Kamenetsky and determine the criteria of early formation of glaucoma. Materials and Methods: We observed 52 patients. Follow up period was from 5 to 22 years. The first group (juvenile) consisted of males who had the first signs of glaucoma diagnosed before the age of 12 (n = 22). The average age of the group was 10.1 ± 2.4 years. The control group included healthy males (n = 30) in the same age range (average age 7.2 ± 1.6 years). The second group (adults) consisted of patients who had the first signs of glaucoma diagnosed after the age of 18 and elder. The average age of the group was 32.44 ± 6.28 years. The control group had males (n = 30) in the same age range (average age 26.59 ± 4.12 years). The inclusion criterion was: the presence of congenital bilateral mesodermal iris leaf hypoplasia, tra-becular dysgenesis signs, the presence of blood relatives on the maternal line (grandfather, uncle) male with similar changes iridociliary zone and glaucoma. Criteria of glaucoma formation were: increased IOP more than 21 mmHg with accompanying it expansion of the cup/disc ratio, reducing the thickness of the nerve fiber layer (RNFL) according to OCT. Results: It was found that Frank-Kamenetsky Syndrome had an X-linked with sex, recessive inheritance and was characterized by bilateral congenital irisdysgenesis and goniodysgenesis with the accession glaucoma. Predictors of glaucoma formation in early childhood are a combination of: 1) congenital subtotal atrophy of iris mesodermal layer (from 0 to 30 mkm) with signs of progressive dystrophy;2) nonprogressive congenital megalocornea (cornea diameter 12 - 14 mm);3) iridotrabecular dysgenesis of II-III degree;4) hyperopic refraction in axial myopia.