目的 提高对囊性纤维化的认识。 方法 2011年11月收治1例自幼有临床表现的囊性纤维化患者，回顾其诊断及治疗经过，复习相关文献总结其临床特征、诊疗进展及预后评价。 结果 囊性纤维化起病年龄较早，患者自幼年起即反复出现肺、消化道、肝脏等多系统病变，最终导致多器官功能衰竭。 结论 应提高对囊性纤维化的识别度，对于发病年龄过早、反复发作的严重支气管扩张，伴随生长发育延迟、肝硬化等临床征象应注意对囊性纤维化的筛查。
Waardenburg syndrome is a rare genetic disease of auditory pigmentation. The main symptom is sensorineural hearing loss. Pigment disorders and other developmental defects in skin, hair, iris, fundus and other parts are specifically divided into four different subtypes, each of which corresponds to different pathogenic genes, which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes. Because there are multiple subtypes of Waardenburg syndrome, different subtypes exhibit different symptoms, signs and ocular manifestations. Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss. Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis. Although there are currently limited treatments for the disease, with the continuous development of gene therapy and hearing management methods, the future treatment prospects will be broader.
Objective To measure and compare the difference between the normal control and retinoschisis with multifocal electroretinography. Methods Nineteen cases (21 eyes) of normal control and 8 cases (15 eyes) of inherited retinoschisis were measured with VERIS ScienceTM 4.0.Three cases (6 eyes) of inherited retinoschisis were tested with Ganzfeld ERG. Results There was statistically significant difference of average response density and latencies in all 6 ring retinal regions between the normal control and retinoschisis. The topography of multifocal ERG showed that multifocal amplitude decreased with disappearing or decreasing of central peak amplitude in patients with retinoschisis. The P1/N1ratio of the multifocal ERG average response densities in 6 ring retinal regions was different from the b/a ratio of the Ganzfeld ERG. Conclusion Each of the multifoca l ERG and Ganzfeld ERG has its advantage in the diagnosis of the retinoschisis. (Chin J Ocul Fundus Dis, 2001,17:268-270)
Coats disease is a relatively rare and idiopathic disorder characterized by retinal telangiectasia and massive intra-retinal and (or) sub-retinal lipid accumulation, resulting in complications including retinal detachment and neovascular glaucoma. Previous reports have revealed that Coats disease can be associated with other disorders, especially some inherited diseases, such as retinitis pigmentosa (RP) and facioscapulohumeral muscular dystrophy (FSHD). Coats disease associated with other inherited disorders is generally called Coats-like retinopathy, which has some unique features that differs from the classic Coats disease, for example there is no sex and age preference, more bilateral cases, more severe cases and more genetic factors involved. Patients of Coats-like retinopathy with RP and FSHD may have mutations in Crumbs homologue gene 1 and D4Z4 genes.