fundus disease
Conditions
Interventions
Gold Standard:Metagenomic sequencing or pathogen detection.
diagnosis 
and 
system 
for 
Intractable 
Sponsors
Eye and ENT hospital of FuDan university
Eligibility
Sex/Gender
Male
Inclusion criteria
Inclusion criteria: 1. Suspected potential patients with single gene mutation inherited eye disease or patients with ocular fundus disease with poor diagnostic/therapeutic efficacy. 2. Informed consent of participants. 3. Available DNA sample or intraocular fluid sample. 4. Patients present with a definite inherited disease, and the genetic diagnosis may significantly alter clinical treatment. Phenotypes or family history are closely related to the genetic etiology. 5. The patient is unlikely to die soon.
Exclusion criteria
Exclusion criteria: 1. Common fundus oculi diseases with clear diagnosis and good prognosis; 2. Patients without fundus oculi disease; 3. For patients with difficult ocular fundus disease, blood sample extraction or intraocular fluid extraction cannot be performed due to special reasons.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| genetic mutation; | — |
Secondary
| Measure | Time frame |
|---|---|
| Etiological data; | — |
Countries
China
Contacts
Public ContactXu Gezhi
Eye and ENT Hospital of Fudan University
Outcome results
None listed