METHODS: Retrospective chart analysis was performed in nineteen patients. Data were analysed using IBM SPSS Statistics version 28.0.1.1.
RESULTS: Nineteen patients were included with a mean age of 32.6 years (range 8-58). Mean age at onset of ophthalmic symptoms was 7.9 years (range 3-16). Median logMAR of visual acuity at inclusion was 0.26 (range -0.18-3.00). Mean age at cataract surgery was 28.8 years (n = 11 patients). Mean spherical equivalent of the refractive error was -8.96 (range -20.87 to -2.25). Cystoid maculopathy was present in 68% of patients, with a loss of integrity of the foveal ellipsoid zone (EZ) in 24/38 eyes. Of the 14 patients treated with dietary protein restriction, the four patients who started the diet before age 10 showed most benefit.
CONCLUSIONS: This study demonstrates the severe ophthalmic disease course associated with GACR, as well as possible benefit of early dietary treatment. In addition to visual loss, patients experience severe myopia, early-onset cataract, and CME. There is a loss of foveal EZ integrity at a young age, emphasising the need for early diagnosis enabling current and future therapeutic interventions.
方法:对19例患者进行回顾性图表分析。使用IBMSPSSStatistics28.0.1.1版分析数据。
结果:纳入19例患者,平均年龄32.6岁(范围8-58)。眼科症状发作的平均年龄为7.9岁(范围3-16)。纳入时视力的中位数logMAR为0.26(范围-0.18-3.00)。白内障手术的平均年龄为28.8岁(n=11例)。屈光不正的平均球面当量为-8.96(范围-20.87至-2.25)。68%的患者存在囊样黄斑病变,24/38眼中中央凹椭圆体区(EZ)的完整性丧失。在接受饮食蛋白限制治疗的14例患者中,在10岁之前开始饮食的四名患者显示出最大的益处。
结论:本研究表明严重的眼科疾病病程与GACR相关,以及早期饮食治疗的可能益处。除了视力丧失,患者经历严重近视,早发性白内障,和CME。在年轻的时候中央凹EZ就失去了完整性,强调需要进行早期诊断,以实现当前和未来的治疗干预。