Department of Vitreoretinal Diseases, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
School of Medicine, Gazi University, Besevler, Ankara, Turkey.
Indian J Ophthalmol. 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22.
Inherited retinal diseases (IRDs) are a group of phenotypically diverse disorders with varied genetic mutations, which result in retinal degeneration leading to visual impairment. When a patient presents to a clinician who is not an IRD expert, establishing a correct diagnosis can be challenging. The patient and the family members are often anxious about further vision loss. They are eager to know the prognosis and chance of further worsening of the vision. It is important for every eye specialist to educate himself/herself about the basics of IRD. It would help to familiarize oneself about how to approach a patient with an IRD. An early and accurate diagnosis can help predict the vision loss and also help the patient plan his/her education and choose appropriate career choices. An updated knowledge about the genetic mutations, mode of inheritance, and possible therapies would empower the eye specialist to help his/her patients. This article gives a broad plan of how to approach a patient with IRD with regards to characterization and diagnosis of the disorder, visual rehabilitation, and possible therapy.
遗传性视网膜疾病（IRDs）是一组表型多样的疾病，具有不同的基因突变，导致视网膜变性导致视力损害。当患者就诊于非 IRD 专家的临床医生时，正确诊断可能具有挑战性。患者和家庭成员通常对进一步的视力丧失感到焦虑。他们渴望了解预后和视力进一步恶化的机会。每位眼科专家都有必要了解 IRD 的基础知识。这有助于熟悉如何治疗 IRD 患者。早期和准确的诊断可以帮助预测视力丧失，也有助于患者规划自己的教育并选择合适的职业选择。关于遗传突变、遗传模式和可能的治疗方法的最新知识将使眼科专家能够帮助他/她的患者。本文提供了一个广泛的计划，说明如何根据疾病的特征和诊断、视力康复以及可能的治疗方法来治疗 IRD 患者。
