(high) Myopia, Inherited Retinal Dystrophies, Inherited connective tissue disorders and other hereditary myopic eye disorders. (severe) Nearsightedness, Inherited diseases of the retina, inherited connective tissue disorders and other genetic causes of nearsightedness
Conditions
Interventions
Not applicable.
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Monogenic cause of disease associated with myopia confirmed or highly suspected, which means: A confirmed monogenic diagnosis based on genetic testing (e.g., pathogenic variant in a known (high) myopia associated gene). A strong clinical suspicion of a Mendelian disease based on clinical phenotype and/or family history (e.g., Stickler syndrome, RPGR-related dystrophy, congenital stationairy nightblindness or ARR3-related myopia).
Exclusion criteria
Exclusion criteria: A potential participant who meets any of the following criteria will be excluded from participation in this study: Inability to perform or undergo required ophthalmological assessments (such as autorefraction or axial length measurements) due to poor cooperation, cognitive impairment or physical limitations.No consent given for overall use of data for research purposes
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameters include ocular biometric and functional outcomes, which will primarily be collected retrospectively (group A and B) from medical records. These parameters include: axial length (AL) and its rate of progression over timeRE (in spherical equivalent refractive error (SER))Best corrected visual aquity (BCVA)Presence and timing of myopia-related complications (e.g., retinal detachment, myopic macular degeneration (MMD) or cataract) | — |
Secondary
| Measure | Time frame |
|---|---|
| Other study parameters that will primarily be collected retrospectively (group A and B) from medical records include: Anterior segment biometry (anterior chamber depth, lens thickness, vitreous chamber depth).Choroidal thickness (measured via OCT)Photopic pupil size (measured prior to cycloplegia). Color vision testing (e.g., Ishihara or HRR plates). Electroretinography (ERG) patterns (e.g., b-wave amplitude, implicit time). Intraocular pressure (IOP) (via tonometry) and presence of glaucoma. Corneal curvature and topography (measured using keratometry and devices such as the Pentacam). Contrast sensitivity and glare testing (age-dependent, if performed). Polygenetic risk score for refractive errorTreatment response parameters (exploratory). Includes changes in AL progression rate, refractive error or BCVA in patients previously treated with atropine or other myopia control interventions. | — |
Countries
Netherlands
Contacts
Public ContactM. Voogelaar
Erasmus MC, Universitair Medisch Centrum Rotterdam
Outcome results
None listed