Genetic syndromes
Conditions
Interventions
Case Group:None
Sponsors
Eye Hospital, Wenzhou Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Subjects who have undergone whole exome sequencing (WES) genetic testing in our outpatient clinic; 2. Subjects with complete ocular and systemic phenotypic data, including corrected visual acuity, refraction, intraocular pressure, fundus photography, corneal topography, slit-lamp examination, eye movement, as well as detailed medical records of systemic disease history, surgical history, family history, etc.
Exclusion criteria
Exclusion criteria: 1. Subjects who have previously undergone whole exome sequencing (WES) genetic testing and have been diagnosed with a genetic disease; 2. Subjects with incomplete clinical data that make genetic diagnosis difficult.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Prevalence of pathogenic variants in genetic syndromes identified through genotype-first opportunistic screening in candidates for refractive surgery; | — |
Secondary
| Measure | Time frame |
|---|---|
| Phenotypic characteristics of probands and their relatives carrying pathogenic variants (including mild ocular abnormalities such as nystagmus, wide interpupillary distance, strabismus, and history of systemic diseases and surgeries); | — |
Countries
China
Contacts
Public ContactChen Shihao
Eye Hospital, Wenzhou Medical University
Outcome results
None listed