五、治疗

五、治疗

(一)一般治疗

对于该病的治疗目前尚无特殊手段,可口服维生素类药物,配戴眼镜以减轻畏光感。

(二)口腔颌面部异常相关的治疗建议

对于釉质发育不全的患者,需加强口腔卫生护理,及时治疗龋坏的牙齿,重度磨耗的进行相应的修复治疗,无保留价值的患牙及时拔除后行相应治疗。

多为对症治疗及口腔卫生保健,定期随访复查以预防口腔疾病的出现和进展。

参考文献

[1]段小红.口腔遗传病学[M].北京:人民卫生出版社,2012.

[2]David A Parry,Alan J Mighell,Walid El-Sayed,et al.Mutations in CNNM4 Cause Jalili Syndrome,Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta.American Journal of Human Genetics,2009,84(2):266-273.(https://www.daowen.com)

[3]Hirji N,Bradley P D,Li S N,et al.Jalili syndrome:Cross-sectional and longitudinal features of seven patients with cone-rod dystrophy and amelogenesis imperfecta[J].American Journal of Ophthalmology,2018,188:123-130.

[4]Jalili I K.Cone-rod dystrophy and amelogenesis imperfecta(Jalili syndrome):Phenotypes and environs[J].Eye(London,England),2010,24(11):1659-1668.

[5]Gerth-Kahlert C,Seebauer B,Dold S,et al.Intra-familial phenotype variability in patients with Jalili syndrome[J].Eye,2015,29(5):712-716.

[6]Jalili I K,Smith N J.A progressive cone-rod dystrophy and amelogenesis imperfecta:A new syndrome[J].Journal of Medical Genetics,1988,25(11):738-740.

[7]Parry D A,Mighell A J,El-Sayed W,et al.Mutations in CNNM4 cause jalili syndrome,consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta[J].The American Journal of Human Genetics,2009,84(2):266-273.

[8]Luder H U,Gerth-Kahlert C,Ostertag-Benzinger S,ct al.Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene[J].PLoS One,2013,8(10):e78529.

[9]Doucette L,Green J,Black C,et al.Molecular genetics of Achromatopsia in Newfoundland reveal genetic heterogeneity,founder effects and the first cases of jalili syndrome in north America[J].Ophthalmic Genetics,2013,34(3):119-129.

(冀 堃 姜国涛 邢向辉)