Case#: Female, 54 yo

FamilyInfo: No family members were available

CasePresentingHPOs: HP:0007924, HP:0000519,HP:0001105, HP:0030825,

CaseHPOFreeText: diagnosed with HIV 15 years ago. She was initially diagnosed with HIV following recurrent respiratory infections and an unintentional weight loss of 12 kg over six months. The diagnosis was confirmed via a positive HIV antibody test, followed by a Western blot confirmation and a CD4 count of 400 cells/mm³ at the time of diagnosis. Antiretroviral therapy (ART) was initiated shortly after confirmation of the diagnosis. Her condition has since progressed to AIDS, with a recent CD4 count of 80 cells/mm³. She was on ART, including tenofovir, emtricitabine, and efavirenz.

CaseNotHPOs: n/a

GenotypeMethod: NGS, Sanger Sequencing

Variant: c.2588G>C in exon 13, c.5461-10T>C in intron 39

ClinVar: Not reported in ClinVar

**SupplementalData: ** indicative of significant loss of central retinal structure (Figure 4).