AI Article Synopsis
- Inherited retinal diseases (IRDs) cause retinal degeneration and visual impairment due to various genetic mutations, making diagnosis tricky for non-expert clinicians.
- Patients and their families are often anxious about vision loss, requiring eye specialists to have a solid understanding of IRDs for effective patient management and support.
- The article outlines a comprehensive approach for diagnosing IRDs, discussing characterization, visual rehabilitation, and potential therapies to empower specialists and improve patient outcomes.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426075 | PMC |
| http://dx.doi.org/10.4103/ijo.IJO_314_22 | DOI Listing |
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