Table 3 Data set for the IRD-PT module, including the Human Phenotype Oncology (HPO) coding when applicable
Field | Type of entry | Answer | Available options |
|---|---|---|---|
1. Patient ID | Free text | Mandatory | |
2. Date of birth | Date format | Mandatory | |
3. Sex | Select from list | Mandatory | Male; female |
4. Date of diagnosis | Date format | Mandatory | |
5. Clinical diagnosis | Select from list (allows selection of more than one option) | Mandatory | See Table 1 |
6. Consanguinity | Select from list | Mandatory | Yes; no; suspected |
7. Family history | Select from list | Mandatory | Yes; no; suspected |
7.1. Family linkage section (only shows if the user answered Yes to the previous question) | Allows introduction of one or multiple affected family members, including their family relation to the patient (brother; sister; mother; father; son; daughter; uncle; aunt; cousin; grandfather; grandmother; other) and Hospital ID which has a hyperlink to that patient’s page in case he/she has consented to be part of the registry | ||
8. Signs and symptoms | Select from list (allows selection of more than one option) | Mandatory | Nyctalopia (HP:0000662); decreased VA (HP:0000529); photophobia (HP:0000613); color vision defects (HP:0000551); central scotoma (HP:0000603); constricted visual field (HP:0001133); photopsia (HP:0030786); nystagmus (HP:0,000,639); headache (HP:0002315); migraine (HP:0002076); visual hallucinations (HP:0002367); other |
9. Age of onset of symptoms | Select from list | Mandatory | at birth; < 5; 6–10; 11–20; 21–30; 31–50; > 51 |
10. Syndromic features | Select from list | Mandatory | Yes/no |
10.1. Syndromic features list (only shows if the user answered yes to the previous question) | Select from list (allows selection of more than one option) | Optional | Hearing loss/deafness (HP:0008527); obesity (HP:0001513); hypogonadism (HP:0000135); diabetes mellitus (HP:0000819); diabetes insipidus (HP:0000873); polydactyly (HP:0010442); other skeletal abnormalities (HP:0000924); cognitive impairment (HP:0100543); developmental delay (HP:0001263); seizures (HP:0001250); ataxia (HP:0001251); dysarthria (HP:0001260); renal insufficiency (HP:0000083); other |
11. Genetic testing | Select from list | Mandatory | Yes/no |
11.1. Type of test (only shows if the user answered yes to genetic testing) | Select from list (allows selection of more than one option) | Optional | Sanger sequencing; NGS panel; WES; MLPA; don’t know; other |
11.2. Gene (only shows if the user answered yes to genetic testing) | Select from list (allows selection of more than one option) | Optional | See Table 2 |
11.3. Variantsa (only shows if the user answered yes to genetic testing) | Free text | Optional | |
11.4. Classification of variants (ACMG) (only shows if the user answered yes to genetic testing) | Select from list (for each introduced variant) | Optional | Pathogenic; likely pathogenic; VUS |
BCVAb | Select from list | Mandatory | From 20/1000 to 20/10 |
IOPb | Free text | Optional | Only accepts numbers from 01 to 99 |
Additional diagnosesb | Select from list (allows selection of more than one option) | Optional | Amblyopia (HP:0000646); cataract (HP:0000518); CNV (HP:0011506); CME (HP:0011505); glaucoma (HP:0000501); ERM (HP:0100014); macular hole (HP:0011508); lamellar hole (HP:0001103); macular pseudohole (HP:0001103); vitreomacular traction (HP:0031151); retinal detachment (HP:0000541); keratoconus (HP:0000563); strabismus (HP:0000486); other |
Previous treatmentsb | Select from list (allows selection of more than one option) | Optional | Vitreoretinal surgery; strabismus surgery; glaucoma surgery; YAG laser capsulotomy; corneal transplant; cataract surgery; intravitreal injection; subretinal injection; laser photocoagulation; refractive surgery; other |