Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease
PCMID:*PMC12657203
PMID41323838
Gene: ABCA4
HGNC ID: 34
Case#:80 year old man,
DiseaseAssertion:NA
FamilyInfo:NA
CasePresentingHPOs:NA
CaseHPOFreeText:Diagnosed w/ targardt disease at the age of 18 years, medical retierment at 64 as result
CaseNotHPOs:*parkinsons at 80
CaseNotHPOFreeText:NA
Genotyping Method:NA
PreviouslyPublished:NA
Variant:after gentic testing (unspecified) a pathogenic heterozygous mutation (G1961E) in ABCA4 gene a substiution, GAA) at amino acid position 1961, or c.5882 G>A at the complementary DNA level, or pGly1961Glu or G1961E at the protein level. No second mutation was identified. One of his 2 sisters had the same mutation.
ClinVar:NA
CAID:NA
SupplementalData:this goes into how eye retina transplant results and outcomes.