10 Matching Annotations
  1. Aug 2026
    1. 35-year-old woman

      **Case#: ** Female, 35yo

      FamilyInfo: Unremarkable

      CasePresentingHPOs: HP:0000529 Progressive visual loss, HP:0030532 Visual acuity, HP:0007401 Macular atrophy

      CaseHPOFreeText: 35-year-old woman presented with symptom of gradually progressive diminution of vision in both eyes since childhood. Patient gave no history of defective night vision.

      CaseNotHPO n/a

      GenoTypeMethod: n/a (optical coherence tomography (OCT))

  2. Dec 2022
  3. Jun 2022
  4. Apr 2022
  5. Feb 2022
  6. Apr 2021
  7. Sep 2017