{"title":"镰状细胞病伴听力缺损和视网膜色素变性","authors":"Stanley Sano","doi":"10.4103/njm.njm_103_22","DOIUrl":null,"url":null,"abstract":"A middle-aged homemaker, known sickle cell anaemia patient presented with complaints of reduced vision and night blindness since childhood along with recent-onset hearing impairment in both ears. Anterior segment findings revealed lens opacities more in the left eye, whereas fundus findings showed widespread bone spicule pigmentation in both eyes. Pure-tone audiometry indicated bilateral sensorineural hearing loss. With improvement in visual acuity after refraction, the corrective spectacle was prescribed along with a hearing aid. She presently maintains a follow-up appointment with the sickle cell, ophthalmology, and ear, nose, and throat clinics for a routine checkup. She has improved in her general health and has been crisis-free since the presentation.","PeriodicalId":52572,"journal":{"name":"Nigerian Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sickle cell disease with hearing defect and retinitis pigmentosa\",\"authors\":\"Stanley Sano\",\"doi\":\"10.4103/njm.njm_103_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A middle-aged homemaker, known sickle cell anaemia patient presented with complaints of reduced vision and night blindness since childhood along with recent-onset hearing impairment in both ears. Anterior segment findings revealed lens opacities more in the left eye, whereas fundus findings showed widespread bone spicule pigmentation in both eyes. Pure-tone audiometry indicated bilateral sensorineural hearing loss. With improvement in visual acuity after refraction, the corrective spectacle was prescribed along with a hearing aid. She presently maintains a follow-up appointment with the sickle cell, ophthalmology, and ear, nose, and throat clinics for a routine checkup. She has improved in her general health and has been crisis-free since the presentation.\",\"PeriodicalId\":52572,\"journal\":{\"name\":\"Nigerian Journal of Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nigerian Journal of Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/njm.njm_103_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nigerian Journal of Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/njm.njm_103_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Sickle cell disease with hearing defect and retinitis pigmentosa
A middle-aged homemaker, known sickle cell anaemia patient presented with complaints of reduced vision and night blindness since childhood along with recent-onset hearing impairment in both ears. Anterior segment findings revealed lens opacities more in the left eye, whereas fundus findings showed widespread bone spicule pigmentation in both eyes. Pure-tone audiometry indicated bilateral sensorineural hearing loss. With improvement in visual acuity after refraction, the corrective spectacle was prescribed along with a hearing aid. She presently maintains a follow-up appointment with the sickle cell, ophthalmology, and ear, nose, and throat clinics for a routine checkup. She has improved in her general health and has been crisis-free since the presentation.
期刊介绍:
The Nigerian Journal of Medicine publishes articles on socio-economic, political and legal matters related to medical practice; conference and workshop reports and medical news.