Roche O, Dureau P, Uteza Y, Dufier J L
Service d'Ophtalmologie, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
J Fr Ophtalmol. 2002 Mar;25(3):312-8.
Congenital megalocornea is a bilateral enlargement of the cornea's diameter that can be associated with trabecula and/or iris dysgenesis. This condition predisposes the patient to glaucoma. The physiopathology is poorly understood and may be related to lens induction during embryological development of the anterior of the eye. X-linked genetic transmission is found in 50% of cases, autosomal transmission in 40%, and sporadic transmission in the remaining 10%. Diagnosis is based on a thorough examination of the child's eye, often with general anesthesia. Different clinical aspects can be observed: simple megalocornea without ocular or systemic anomalies, megalocornea with ocular and/or systemic anomalies as well as multiple malformation syndromes, dermatological diseases, skeletal diseases, and genetic or chromosomic diseases. A systematic general pediatric examination is therefore necessary. Congenital megalocornea must be considered, first of all, as a differential diagnosis of primary congenital glaucoma and all of its etiologies. Treatment of associated ocular diseases, the search for an association with systemic diseases, and follow-up for the rest of the patient's life are indispensable.
先天性大角膜是一种角膜直径双侧增大的病症,可伴有小梁和/或虹膜发育不全。这种情况使患者易患青光眼。其病理生理学尚不清楚,可能与眼前部胚胎发育过程中的晶状体诱导有关。50%的病例为X连锁遗传,40%为常染色体遗传,其余10%为散发遗传。诊断基于对儿童眼睛的全面检查,通常需要全身麻醉。可观察到不同的临床情况:无眼部或全身异常的单纯性大角膜、伴有眼部和/或全身异常以及多种畸形综合征、皮肤病、骨骼疾病和遗传或染色体疾病的大角膜。因此,有必要进行系统的儿科全身检查。首先,先天性大角膜必须被视为原发性先天性青光眼及其所有病因的鉴别诊断。治疗相关的眼部疾病、寻找与全身性疾病的关联以及对患者余生进行随访都是必不可少的。