Savarese Marco, Spinelli Elide, Gandolfo Federico, Lemma Valentina, Di Fruscio Giuseppina, Padoan Rita, Morescalchi Francesco, D'Agostino Massimo, Savoldi Gianfranco, Semeraro Francesco, Nigro Vincenzo, Bonatti Stefano
Department of Biochemistry, Biophysics and General Pathology, Second University of Naples , Italy .
Ophthalmic Genet. 2014 Sep;35(3):184-6. doi: 10.3109/13816810.2013.811270. Epub 2013 Jul 8.
Familial exudative vitreoretinopathy (FEVR) is a genetic disease affecting the vascularization of the peripheral retina. The clinical manifestations are very heterogeneous, ranging from mildly affected patients, who could present no visual defects, to severe conditions which can also cause complete blindness at birth or in the first decade. FEVR can be inherited in all the three genetic forms: dominant, recessive and X-linked. To date, four genes have been associated with the condition: TSPAN12. NDP. FDZ4 and LRP5. Interestingly, mutations in TSPAN12 have been considered causative of both a dominant and recessive inheritance and a FEVR phenotype sensitive to the number of TSPAN12 mutations has been supposed. Here we describe a case of a female infant affected by cystic fibrosis and by a severe form of exudative vitreoretinopathy. In particular, we have detected the homozygous missense mutation c.668 T > C in TSPAN12. Neither of the heterozygous parents has ocular manifestations of the disease, suggesting a classic recessive mendelian pattern of inheritance.
家族性渗出性玻璃体视网膜病变（FEVR）是一种影响周边视网膜血管化的遗传性疾病。其临床表现非常多样，从可能没有视觉缺陷的轻度受累患者到严重情况，严重情况还可能在出生时或第一个十年内导致完全失明。FEVR可通过所有三种遗传形式遗传：显性、隐性和X连锁。迄今为止，已有四个基因与该病相关：TSPAN12、NDP、FDZ4和LRP5。有趣的是，TSPAN12中的突变被认为是显性和隐性遗传的病因，并且推测存在对TSPAN12突变数量敏感的FEVR表型。在此，我们描述了一例患有囊性纤维化和严重渗出性玻璃体视网膜病变的女婴病例。特别是，我们在TSPAN12中检测到纯合错义突变c.668 T＞C。杂合子父母均无该疾病的眼部表现，提示为典型的隐性孟德尔遗传模式。
