Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The objective of this study is to discover biomarkers that demonstrate a correlation between the severity of retinitis pigmentosa (RP) and the thickness of the retinal pigment epithelium (RPE). These biomarkers will serve as prognostic indicators for various kinds of retinitis pigmentosa. The objective of this study is to find biomarkers that establish a correlation between the severity of retinitis pigmentosa and the thickness of the retinal pigment epithelium (RPE), which can serve as a prognostic indicator for Retinitis Pigmentosa.
After a genetic confirmation of RP and classification, the patients will undergo a comprehensive ophthalmological examination that includes the following tests: slit-lamp anterior segment, visual acuity direct and indirect ophthalmoscopy, intraocular pressure, and family history.In order to evaluate the potential role of RPE in the advancement of RP, HD-OCT and OCT angiography images of the outer retina using OCT devices will be performed.
Analysis of high-resolution images captured with an ultrawidefield system using a Zeiss Clarus device in order to determine the condition of the peripheral retina.Finally, Flicker Electroretinogram (fERG) performed on the central retina (macula), to assess the central macular function within an 18° field of view. This assessment involved measuring the response of the macula to a flickering stimulus with a frequency of 41 Hz, which is commonly done in routine clinical practice.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1. Patients with rhodopsin mutation (RHO) | Following a clinical diagnosis, patients undergo genetic testing. Patients with rhodopsin mutation (RHO) a mutation are categorised into subgroup 1. |
| |
| 2. Patients with pre-mRNA factor 8 (PRPF8) mutation | Following a clinical diagnosis, patients undergo genetic testing. Patients with pre-mRNA factor 8 (PRPF8) mutation are categorised into subgroup 2. |
| |
| 3.Patients a cone-specific phosphodiesterase, i.e. PDE6B, mutation | Following a clinical diagnosis, patients undergo genetic testing. Patients with a cone-specific phosphodiesterase, i.e. PDE6B, mutation are categorised into subgroup 3. |
| |
| 4. Patients with Chromosome 2-Open (C2orf71) mutation | Following a clinical diagnosis, patients undergo genetic testing. Patients with Chromosome 2-Open (C2orf71) mutation are categorised into subgroup 4. |
| |
| 5. Patients with Guanylate Cyclase (GUCY2D) mutation |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence. | Diagnostic Test | the best visual acuity will be evaluated using decimal tables and then converted to logMar. Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%. OCT will be essential to quantify the central macular thickness and the thickness of the RPE. OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density. Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution. Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO). |
| Measure | Description | Time Frame |
|---|---|---|
| Retinal pigment epithelium changes in Retinitis Pigmentosa. | Retinal pigment epithelium extent measured with OCT calliper (micrometers). | 14 months |
| Measure | Description | Time Frame |
|---|---|---|
| Retinitis Pigmentosa biomarkers | Measurement of retinal pigment epithelium extension by oct calliper (micrometers) in different forms of retinitis pigmentosa. Measurement of superficial and deep retinal vascularisation in the different forms of retinitis pigmentosa. | 14 months |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
The patients will be enrolled at the Ophthalmology department of Fondazione Policlinico Universitario A. Gemelli IRCCS.
Patients with diverse kinds of RP with genetic confirmation, no other retinal disorders, pressure under 25 mmHg for three months, and no corneal surgery in the past year are included.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Stanislao Rizzo, MD, Prof | Contact | 0630151 | stanislao.rizzo@policlinicogemelli.it | |
| Valentina Cestrone | Contact | 3200609905 | valentina.cestrone@guest.policlinicogemelli.it |
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Maria Cristina Savastano | Recruiting | Roma | 00198 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28962928 | Background | Campochiaro PA, Mir TA. The mechanism of cone cell death in Retinitis Pigmentosa. Prog Retin Eye Res. 2018 Jan;62:24-37. doi: 10.1016/j.preteyeres.2017.08.004. Epub 2017 Sep 27. | |
| 29097191 | Background | Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. Prog Retin Eye Res. 2018 Mar;63:107-131. doi: 10.1016/j.preteyeres.2017.10.004. Epub 2017 Oct 31. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| D012162 | Retinal Degeneration |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D058499 | Retinal Dystrophies |
| D012164 | Retinal Diseases |
Not provided
Not provided
| ID | Term |
|---|---|
| D041623 | Tomography, Optical Coherence |
| ID | Term |
|---|---|
| D041622 | Tomography, Optical |
| D061848 | Optical Imaging |
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
Not provided
Not provided
Not provided
Not provided
Not provided
Following a clinical diagnosis, patients undergo genetic testing. Patients with Guanylate Cyclase (GUCY2D) mutation are categorised into subgroup 5. |
|
| 6. Patients with RP- specific nuclear receptor (Nr2E3) mutation | Following a clinical diagnosis, patients undergo genetic testing. Patients with RP- specific nuclear receptor (Nr2E3) mutation are categorised into subgroup 6. |
|
|
| 35757022 | Background | Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L. Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs. Clin Ophthalmol. 2022 Jun 20;16:1993-2010. doi: 10.2147/OPTH.S365486. eCollection 2022. |
| 28237413 | Background | Chaumet-Riffaud AE, Chaumet-Riffaud P, Cariou A, Devisme C, Audo I, Sahel JA, Mohand-Said S. Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults. Am J Ophthalmol. 2017 May;177:169-174. doi: 10.1016/j.ajo.2017.02.016. Epub 2017 Feb 22. |
| 17113430 | Background | Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. |
| 36840007 | Background | Wu KY, Kulbay M, Toameh D, Xu AQ, Kalevar A, Tran SD. Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development. Pharmaceutics. 2023 Feb 17;15(2):685. doi: 10.3390/pharmaceutics15020685. |
| 28712537 | Background | Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. |
| 30705041 | Background | Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA. Classification of disease severity in retinitis pigmentosa. Br J Ophthalmol. 2019 Nov;103(11):1595-1599. doi: 10.1136/bjophthalmol-2018-313669. Epub 2019 Jan 31. |
| 35077530 | Background | Savastano MC, Falsini B, Ferrara S, Scampoli A, Piccardi M, Savastano A, Rizzo S. Subretinal Pigment Epithelium Illumination Combined With Focal Electroretinogram and Visual Acuity for Early Diagnosis and Prognosis of Non-Exudative Age-Related Macular Degeneration: New Insights for Personalized Medicine. Transl Vis Sci Technol. 2022 Jan 3;11(1):35. doi: 10.1167/tvst.11.1.35. |
| 31708275 | Background | Guymer RH, Rosenfeld PJ, Curcio CA, Holz FG, Staurenghi G, Freund KB, Schmitz-Valckenberg S, Sparrow J, Spaide RF, Tufail A, Chakravarthy U, Jaffe GJ, Csaky K, Sarraf D, Mones JM, Tadayoni R, Grunwald J, Bottoni F, Liakopoulos S, Pauleikhoff D, Pagliarini S, Chew EY, Viola F, Fleckenstein M, Blodi BA, Lim TH, Chong V, Lutty J, Bird AC, Sadda SR. Incomplete Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Classification of Atrophy Meeting Report 4. Ophthalmology. 2020 Mar;127(3):394-409. doi: 10.1016/j.ophtha.2019.09.035. Epub 2019 Sep 30. |
| 36899994 | Background | Placidi G, Maltese PE, Savastano MC, D'Agostino E, Cestrone V, Bertelli M, Chiurazzi P, Maceroni M, Minnella AM, Ziccardi L, Parisi V, Rizzo S, Falsini B. Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel). 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850. |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003933 | Diagnosis |
| D014054 | Tomography |
| D008919 | Investigative Techniques |