Levy H L, Brown A E, Williams S E, de Juan E
Division of Genetics, Children's Hospital, Boston, MA 02115, USA.
J Pediatr. 1996 Dec;129(6):922-5. doi: 10.1016/s0022-3476(96)70041-0.
A major complication of galactosemia is cataracts. This is usually considered to be the sole ophthalmic feature of this disorder. However, we have encountered vitreous hemorrhage, a very rare ophthalmic finding, in five neonates with galactosemia and have found four probable additional cases in the literature. All of these infants had severe neonatal manifestations of galactosemia and were discovered to have vitreous hemorrhage by ophthalmologic examination initiated by the observation of clouding of the eye or on a routine basis. The infants lost most or all vision from the affected eye. Retinal abnormalities were present in the involved eyes of the five neonates of whom we have direct knowledge. Thus we believe that retinal hemorrhage is the most likely source of the vitreous hemorrhage and that the coagulopathy associated with neonatal disease in galactosemia leads to vitreous hemorrhage. Prompt recognition and therapy for the coagulopathy would likely prevent vitreous hemorrhage in galactosemia.
半乳糖血症的一个主要并发症是白内障。这通常被认为是该疾病唯一的眼科特征。然而，我们在5例患有半乳糖血症的新生儿中遇到了玻璃体出血，这是一种非常罕见的眼科发现，并且在文献中还发现了另外4例可能的病例。所有这些婴儿都有严重的半乳糖血症新生儿表现，通过观察眼睛混浊或常规眼科检查发现有玻璃体出血。这些婴儿患眼大部分或全部视力丧失。我们直接了解的5例新生儿患眼中存在视网膜异常。因此，我们认为视网膜出血最有可能是玻璃体出血的来源，并且半乳糖血症新生儿疾病相关的凝血病会导致玻璃体出血。及时识别和治疗凝血病可能会预防半乳糖血症患者的玻璃体出血。
