| Autor: |
Shah, Arth H., Park, Elisse, Luke, Tamara, Qingguo Xu, Jewell, Ann, Couser, Natario L. |
| Zdroj: |
Retinal Cases & Brief Reports; Sep2024, Vol. 18 Issue 5, p637-641, 5p |
| Abstrakt: |
Purpose: To identify and highlight potential delays in diagnosis and improve the characterization of the providers referring individuals affected with suspected inherited retinal diseases for specialty care, the authors performed an analysis of the patients with inherited retinal diseases seen by an ophthalmic genetics specialty service. In addition, the authors analyzed the diagnostic yield of genetic testing in patients with inherited retinal disease in our series and compared this information with other previous studies. Methods: The authors analyzed 131 consecutive patients with suspected inherited retinal diseases referred to an ophthalmic genetics specialty service at a tertiary hospital. Provider referral patterns, delays in diagnosis, and the diagnostic yield of genetic testing were evaluated. Results: Mean age in the cohort was 24 years. From the 51 patients who underwent genetic testing, the diagnostic yield was 69%. Of these, genetic testing revealed that 51% of patients had an incorrect initial referral clinical diagnosis. The average delay to reach a correct diagnosis was 15 years. Ophthalmologists represented the largest referral base at 80%, followed by neurologists representing 5% of referrals. Pediatric and retinal specialists were the largest referral of ophthalmic subspecialties at 44% and 35%, respectively. Conclusion: A significant number of patients experienced a prolonged delay in reaching a correct diagnosis largely because of a delay in initiating the genetic evaluation and testing process. The initial suspected clinical diagnosis was incorrect in a significant number of cases, revealing that affected patients were potentially denied from appropriate recurrence risk counseling, relevant educational resources, specialty referrals in syndromic cases, and clinical trial eligibility in a timely manner. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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