Joubert综合征合并视网膜发育不良1例
A Case of Joubert Syndrome with Retinal Dysplasia

作者: 王淋淋 :广东医学院,湛江; 黄宇戈 :广东医学院附属医院儿科,湛江;

关键词: Joubert综合征视网膜发育不良脑部疾病眼科学Joubert Syndrome Retinal Hypoplasia Cerebral Disease Ophthalmology

摘要:
Joubert综合征(Joubert syndrome, JS)是一种较为罕见的脑干及小脑蚓部先天性发育畸形,属于常染色体隐性遗传性疾病,该病可合并其它器官功能异常,即JS及相关畸形(Joubert Syndrome and Related Disorders, JSRD),如视网膜营养不良、肾囊肿、肝纤维化、多指畸形等[1]。在我国已有几例个案报道,但多未见合并其它器官异常,本例Joubert综合征有合并视网膜发育不良,本文结合相关文献进行讨论。

Abstract:
Joubert syndrome (JS) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermiswhich may be associated with other organ dysfunction (Joubert Syndrome and Related Disorders, JSRD), mainly as retinal dystrophy, nephronophthisis, hepatic fibrosis and polydactyly. It had been reported in the previous literature in our country, however, most do not mention other organ dysfunction. In the following case complicated with retinal dysplasia was discussed with relate literature.

文章引用: 王淋淋 , 黄宇戈 (2013) Joubert综合征合并视网膜发育不良1例。 眼科学, 2, 7-9. doi: 10.12677/HJO.2013.22002

参考文献

[1] J. Paprocka, E. Jamroz. Joubert syndrome and related disorders. Polish Journal of Neurology and Neurosurgery, 2012, 46(4): 379-383.

[2] M. A. Parisi. Clinical and molecular features of Joubert syndro- me and related disorders. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2009, 151C(4): 326-340.

[3] M. Joubert, J. J. Eisenring, J. P. Robb, et al. Familial agenesis of the cere-bellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology, 1969, 19(9): 813-825.

[4] M. Srour, J. Schwartzentruber, F. F. Hamdan, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Cana-dian population. American Journal of Human Genetics, 2012, 90(4): 693-700.

[5] L. Travaglini, F. Brancati, J. Silhavy, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 2013.

[6] M. Srour, F. F Hamdan, J. A. Schwartzentruber, L. Patry, et al. Mutations in TMEM231 cause Joubert syndrome in French Ca- nadi-ans. Journal of Medical Genetics, 2012, 49(10): 636-641.

[7] M. Srour, J. Schwartzentruber, F. F. Hamdan, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. American Journal of Human Genetics, 2012, 90(4): 693-700.

[8] E. M. Valente, F. Brancati, E. Boltshauser, et al. Clinical utility gene card for: Joubert syndrome-update 2013. European Journal of Human Genetics, 2013.

[9] F. Brancati, G. Barrano, J. L. Silhavy, et al. CEP290 muta-tions are frequently identified in the oculo-renal form of Joubert’s syndrome-related disorders. American Journal of Human Genet- ics, 2007, 81(1): 104-113.

[10] M. A. Parisi, D. Doherty, M. L. Eckert, et al. AHI1 mutations cause both retinal dystrophy and renal cystic dis-ease in Joubert’s syndrome. Journal of Medical Genetics, 2006, 43(4): 334-339.

[11] A. O. Khan, D. T. Oystreck, M. Z. Seidahmed, et al. Ophthalmic features of Joubert syndrome. Ophthalmology, 2008, 115(12): 2286-2289.

[12] P. Hurtado, H. Pachajoa. Molar tooth sign: A characteristic im- age in Joubert syndrome. Neurologia, 2010, 25(2): 140-141.

[13] V. Sturm, H. Leiba, M. N. Menke, et al. Ophthal-mological find- ings in Joubert syndrome. Eye (Lond), 2010, 24(2): 222-225.

分享
Top