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.
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.