Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No Intervention: Observational Cohort.
- Who it may be relevant to
- Registry conditions: Retinal Degenerations, Retinitis Pigmentosa (RP), Stargardt Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations, Monocentric Retrospective Observational Study
Overview
Inherited Retinal Diseases (IRDs) are a heterogeneous group of genetically based degenerative retinal disorders, representing a major cause of visual impairment and blindness in working-age adults. Despite the approval of the first gene therapy for RPE65-related IRD (voretigene neparvovec) in 2017, most IRDs remain untreatable, though many gene therapies are in development. Effective trial design and therapy development require a deep understanding of disease natural history and genotype-phenotype correlations. Over 270 IRD-associated genes are known (e.g., ABCA4, USH2A, RPGR, PRPH2, BEST1), each linked to distinct phenotypes and clinical progression. This retrospective study analyzes clinical, functional, and imaging data (Optical Coherence Tomography, Fundus Autofluorescence, Microperimetry) from a large, genetically characterized IRD cohort at the IRCCS Ospedale San Raffaele up to December 31, 2025. The aims are to describe natural history, define genotype-phenotype relationships, and identify structural and functional outcome measures useful for future clinical trial endpoints, supporting personalized prognosis and trial design.
Interventions
- Other No Intervention: Observational Cohort
no intervention, natural history study
Primary outcome measures
- Best-corrected Visual Acuity [Time frame: through study completion, an average of 1 year]
- Macular threshold sensitivity [Time frame: through study completion, an average of 1 year]
- Total Macular volume [Time frame: through study completion, an average of 1 year]
- Centra Subfield Thickness [Time frame: through study completion, an average of 1 year]
- Preserved Ellipsoid zone area [Time frame: through study completion, an average of 1 year]
- Foveal Outer Nuclear Layer thickness [Time frame: through study completion, an average of 1 year]
- Ellipsoid zone loss area [Time frame: through study completion, an average of 1 year]
- Hyperautofluorescent (Robson- Holder) ring area [Time frame: through study completion, an average of 1 year]
- Dereased Autofluorescence area [Time frame: through study completion, an average of 1 year]
Eligibility criteria
Inclusion criteria
- Participant completed at least one ophthalmological and retinal imaging examination at our center.
- Clinically diagnosed with IRD, as per familiy history, clinical signs or symptoms, retinal imaging findings.
- Definitive genetic diagnosis of IRD with adequate molecular test
Exclusion criteria
- Affected by other retinal or optic nerve conditions potentially affecting analyses (diabetic retinopathy, glaucoma).
- History of retinotoxic medications (i.e., hydroxychloroquine, pentosan polysulfate sodium, tamoxifen, ritonavir, didanosine, MEK inhibitors) intake.
- Unclear genetic diagnosis.
- Incomplete or inadequate ophthalmological and imaging tests.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- IRCCS Ospedale San Raffaele — Milan
Identifiers
NCT: NCT07265895 · IRDs-OSR