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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge
    1
    1. Vibhor 26 Jul 2026
      A 25‐year‐old male presented to our hospital with a chief complaint of blurred vision in the right eye and significant night vision difficulties (nyctalopia) for 5 years.

      Case#:patient, 25, male

      DiseaseAssertion:Retinitis Pigmentosa

      FamilyInfo:Unaffected brother with no variants, parents each heterozygous for one pathogenic variant in ABCA4

      CasePresentingHPOs: HP:0000007, HP:0011462, HP:0007703, HP:0000662, HP:0007641

      CaseHPOFreeText: Onset 20 year old. Gradual onset of blurred vision OD, dyschromatopsia. BCVA 1/20 OD 20/20 OS. Optic disc pale, retinal arteries and foveal reflex attenuated. Yellow deposits in perofoveal area and mid-peripheral retina, which showed mottled appearance OU. OCT - thinning of outer nuclear layer and disruption of ellipsoid zone with hyper-reflective flecks. Severe bilateral constriction in visual field. Hypofluorescence of optic disc OU

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: whole exome (Sanger segregation test)

      PreviouslyPublished: n/a

      Variant: NM_000350.3:c.4793C>A; NM_000350.3:c.1769A>G

      ClinVar: 99321

      CAID: CA341279788

      SupplementalData: n/a

      InheritancePattern:AutosomalRecessive DiseaseEntity:IRD DiseaseEntity:RP AlleleOrigin:Germline Zygosity:CompoundHeterozygous CAID:CA341279788 ClinVarID: 99321 RPEMottling NightBlindness OpticnervePallor automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12740048/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation
    1
    1. Vibhor 26 Jul 2026
      The variant was c.52C>T (p.Arg18Trp).

      PMID:39398711

      Gene: ABCA4

      HGNC ID: 34

      Case Annotation Template

      Case#: 19-year-old male

      DiseaseAssertion: Stargardt disease 1 (STGD1)

      FamilyInfo: No family history of eye disease reported. Autosomal recessive inheritance consistent with STGD1. Homozygous ABCA4 variant identified.

      CasePresentingHPOs: DecreasedCentralVA, MacularAtrophy, MacularFlecks, PeripapillarySparing, OpticNervePallor

      CaseHPOFreeText: Five-year history of progressive bilateral central vision loss, worse at near. Alternating exotropia measuring 16 prism diopters in all gazes OU. Best corrected visual acuity 20/200 OU. Fundus examination revealed pigment deposition and macular mottling. Fundus autofluorescence showed central decreased autofluorescence surrounded by increased autofluorescence. Fluorescein angiography demonstrated dark choroid. OCT showed loss of the central ellipsoid zone with hyperreflective deposits. Multifocal ERG demonstrated significant functional loss.

      CaseNotHPOs: NightBlindness

      CaseNotHPOFreeText: Patient denied nyctalopia, photophobia, or flashes. Color vision normal on Ishihara testing.

      Genotyping Method: Genotyping Method: Next-generation sequencing (NGS) with deletion/duplication analysis (Invitae Corporation).

      PreviouslyPublished: N/A

      Variant: ABCA4 c.52C>T (p.Arg18Trp)

      ClinVar: ClinVarID:7899

      CAID: N/A

      SupplementalData: N/A

      Gene:ABCA4 HGNC:34 DiseaseEntity:STGD1 InheritancePattern:AutosomalRecessive AlleleOrigin:Germline Zygosity:Homozygous ClinVarID:7899 DecreasedCentralVA MultipleGeneVariants MacularAtrophy MacularFlecks PeripapillarySparing OpticNervePallor exotropia stargardt disease ocular disease automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC11471040/