Abstract：
OBJECTIVE: Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive inherited metabolic disorder (IMD) characterised by progressive retinal degeneration, leading to severe visual impairment. The rapid developments in ophthalmic genetic therapies warrant knowledge on clinical phenotype of eligible diseases such as GACR to define future therapeutic parameters in clinical trials.
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.
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.
摘要：
目的：脉络膜和视网膜萎缩（GACR）是一种常染色体隐性遗传代谢紊乱（IMD），以进行性视网膜变性为特征，导致严重的视力障碍。眼科基因疗法的快速发展保证了对合格疾病如GACR的临床表型的了解，以在临床试验中定义未来的治疗参数。
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。
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。
