Gouws Danielle, van der Westhuizen Dian P, Stuart Kelsey V
Department of Ophthalmology, Robert Mangaliso Sobukwe Hospital, Kimberley, South Africa.
Division of Ophthalmology, Tygerberg Academic Hospital and Stellenbosch University, Cape Town, South Africa.
Digit J Ophthalmol. 2024 Aug 4;30(3):55-59. doi: 10.5693/djo.02.2024.03.001. eCollection 2024.
We present 3 cases of bilateral anterior lens capsule rupture, all leading to a subsequent diagnosis of Alport syndrome. Clinicians should be alert to the ocular and systemic features of Alport syndrome, especially when presented with a spontaneous rupture of the anterior lens capsule in young males. Ophthalmologists are often the first contact for patients with Alport syndrome, and a sound knowledge of the associated features will enable timely referral to other members of a multidisciplinary team required to treat such patients. Diagnosis and subsequent testing of affected families further aids in genetic counseling and early, comprehensive treatment.
我们报告了3例双侧晶状体前囊破裂病例,所有病例随后均被诊断为Alport综合征。临床医生应警惕Alport综合征的眼部和全身特征,尤其是当年轻男性出现自发性晶状体前囊破裂时。眼科医生通常是Alport综合征患者的首诊医生,熟悉相关特征将有助于及时转诊至治疗此类患者所需的多学科团队的其他成员。对受影响家庭进行诊断和后续检测有助于进一步开展遗传咨询和早期综合治疗。