Nicolaou Nicolas, Nicolaou Despina, Christou Savvas
Ophthalmology, Faculty of Medicine and Dentistry, Queen Mary University of London, London, GBR.
Orthopedics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, GBR.
Cureus. 2025 Mar 26;17(3):e81223. doi: 10.7759/cureus.81223. eCollection 2025 Mar.
Bilateral spherophakia is a rare congenital condition, typically associated with syndromic disorders where distinctive features facilitate early recognition. Isolated cases without systemic involvement are often underdiagnosed and identified following angle-closure glaucoma or crystalline lens (CL) subluxation. In spherophakia, the CL adopts a spherical shape due to defective zonular fibers, inducing lenticular myopia. We report the case of a six-year-old boy presenting with short stature, high myopia, and bilateral low vision, initially misdiagnosed. A progressive myopic shift of -0.50 D every three to six months led to a refractive error of -16.00 D over 10 years. Axial lengths, keratometry (K) readings, and posterior segment findings were normal, supporting a diagnosis of lenticular rather than axial or corneal myopia. Anterior chamber depths (ACD) and angles were bilaterally shallow. The co-existence of isolated spherophakia and short stature initiated genetic evaluation, given established associations with sporadic ADAMTS17 mutations. However, the results were inconclusive. Isolated spherophakia should be considered in children presenting with short stature and high myopia, particularly in consanguineous families. Grade 1 phacodonesis or lens hypermobility was observed on slit-lamp biomicroscopy, indicating CL instability. This report aims to increase awareness of spherophakia in the absence of systemic involvement. Key features include progressive high myopia with normal axial length, K readings, and increased CL thickness and power. Bilaterally shallow ACD and symptoms of intermittent blurred vision in dim light suggest angle closure. Bilateral amblyopia is also common. Careful observation for phacodonesis is emphasized as it is a potential risk for CL subluxation in spherophakia. Management strategies are outlined to support timely intervention.
双侧球形晶状体是一种罕见的先天性疾病，通常与伴有独特特征从而便于早期识别的综合征性疾病相关。无全身受累的孤立病例常被漏诊，常在闭角型青光眼或晶状体半脱位后才得以确诊。在球形晶状体中，由于悬韧带纤维缺陷，晶状体呈球形，导致晶状体性近视。我们报告一例6岁男孩，表现为身材矮小、高度近视和双眼低视力，最初被误诊。每三到六个月近视度数进展-0.50 D，10年内屈光不正达到-16.00 D。眼轴长度、角膜曲率计（K）读数和眼后段检查结果均正常，支持晶状体性近视而非轴性或角膜性近视的诊断。双眼前房深度（ACD）和房角均较浅。鉴于已确定孤立性球形晶状体与散发性ADAMTS17突变有关，孤立性球形晶状体与身材矮小并存引发了基因评估。然而，结果尚无定论。对于身材矮小和高度近视的儿童，尤其是近亲家庭的儿童，应考虑孤立性球形晶状体的可能。裂隙灯生物显微镜检查发现1级晶状体震颤或晶状体活动度增加，提示晶状体不稳定。本报告旨在提高对无全身受累情况下球形晶状体的认识。关键特征包括眼轴长度正常但进展性高度近视、K读数正常、晶状体厚度和屈光力增加。双眼ACD浅以及暗光下间歇性视力模糊症状提示房角关闭。双眼弱视也很常见。强调要仔细观察晶状体震颤，因为它是球形晶状体中晶状体半脱位的潜在风险。文中概述了管理策略以支持及时干预。
