RED VAR

This content covers a detailed record of a patient's medical information including genetic tests performed, visual field examinations, refraction data, fundus and autofluorescence results, OCT scans, electrophysiology data, and conclusions drawn from the case. Each section provides valuable insights into the patient's health condition, test results, and possible diagnosis, aiding healthcare professionals in decision-making and treatment planning.

• Patient Profile
• Medical Records
• Examination Results
• Genetic Testing
• Healthcare

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Uploaded on Feb 18, 2025 | 0 Views

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Presentation Transcript

1. RED VAR Patient : Panel Lead Panel Nickname* : Age of the patient: Gender : Name : Centre : * Center name followed by patient inclusion number, e.g. CARGO01 Suspected diagnosis orphacode : XX

2. Medical history Relevant Medical History

3. Family History Relevant family history Family tree Consanguinity: yes/no/unknown/suspected Number of persons affected : Suspected mode of transmission : Persons available to be sampled :

4. Genetic tests performed Date : Type of test: Sanger, CGH-array, panel, whole exome (WES),... Diagnostic laboratory : Name of the biologist who signed the result : Disease group tested (Panel name) : Number of genes tested : Results: gene(s)/variant(s)/classification of variant(s)

5. Visual Field Please add a screenshot (anonymized) of the exam here Date :

6. Refraction and visual acuity Date : OD OS

7. Fundus Date of the examination : Date : OD OS Relevant comments: 7

8. Autofluorescence Date of the examination : : Date : OD OS Relevant comments : 8

9. OCT Date of the examination : Date : OD OS Relevants comments : 9

10. Electrophysiology Please add a screenshot (anonymized) of the exam here Date : Location:

11. Conclusions ( Suspected diagnosis orphacode : XX Persons available to be sampled : Decision : Accepted/Refused