Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

被引：5

作者：

Simonelli, Francesca ^{[1
]}

Sodi, Andrea ^{[2
]}

Falsini, Benedetto ^{[3
,4
]}

Bacci, Giacomo ^{[5
]}

Iarossi, Giancarlo ^{[6
]}

Di Iorio, Valentina ^{[1
]}

Giorgio, Dario ^{[2
]}

Placidi, Giorgio ^{[3
,4
]}

Andrao, Assia ^{[7
]}

Reale, Luigi ^{[8
]}

Fiorencis, Alessandra ^{[8
]}

Aoun, Manar ^{[9
]}

机构：

[1] Univ Campania L Vanvitelli, Multidisciplinary Dept Med Surg & Dent Sci, Eye Clin, Naples, Italy

[2] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth, Florence, Italy

[3] Fdn Policlin Univ A Gemelli IRCCS, UOC Oftalmol, Rome, Italy

[4] Univ Cattolica Sacro Cuore, Dipartimento Testa Collo & Organi Senso, Rome, Italy

[5] Univ Florence, Childrens Hosp A Meyer, Paediat Ophthalmol Unit, Florence, Italy

[6] Bambino Gesu IRCCS Paediat Hosp, Dept Ophthalmol, Rome, Italy

[7] Retina Italia Onlus Assoc, Milan, Italy

[8] Fdn ISTUD, Healthcare Dept, Via Paolo Lomazzo 19, I-20124 Milan, Italy

[9] Novartis Farma, Dept Med, Origgio, Italy

来源：

CLINICAL OPHTHALMOLOGY | 2021年 / 15卷

关键词：

IRDs management; multidisciplinary; inherited retinal dystrophies; diagnosis; patient's pathway; EXPERIENCE; MANAGEMENT; THERAPY;

D O I：

10.2147/OPTH.S331218

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals. Patients and Methods: This project was conducted between July and December 2020, involving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. In-depth interviews were conducted with Patient Association (PA) members and multidisciplinary healthcare professionals. All data were entered into the Nvivo Software for coding and analysis. Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled; 11 retinologists globally wrote 27 parallel charts; in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Well-organized networks to support the patient's referral to specialized centers - as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach - emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway. Conclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. The analysis explored the patient's pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs.

引用

页码：4591 / 4605

页数：15