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  1. Last 7 days
  2. www.jmdjournal.org www.jmdjournal.org
    Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
    1
    1. Vibhor 26 Jul 2026
      Thirty-eight sporadic cases (60%) were resolved, of which 34 presented mutations in AR inheritance genes, three in AD inheritance genes, and one in XL inheritance. According to the genetic results, five initially AD retinitis pigmentosa (adRP) cases were reclassified to AR retinitis pigmentosa (arRP; fRPN-110) and to XL RP (fRPN-GB, fRPN-45, fRPN-97, fRPN-174), two arRP families to adRP (fRPN-AP, fRPN-168), one autosomal dominant MD family to late-onset retinal degeneration (LORD; fRPN-100), one Best MD case to CRD (fRPN-125), and one STGD case to Best MD (fRPN-39) (Supplemental Table S5).

      Case#: Proband RPN-290, Male, 43yo at genetic testing, 27yo at dx, onset in 30s, Spanish

      DiseaseAssertion: Nonsyndromic Inherited Retinal Dystrophies. Stargardt

      FamilyInfo: Family RPN-133

      CasePresentingHPOs:

      CaseHPOFreeText: decreased visual acuity, photophobia, BCVA (logMAR) 28y: 0,0/0,0 35y: 0,4/0,1 43y: 1,0/1,0, central scotoma (56/ 63), yellow-white deposits around the macula, central and peripheral neuroepithelium thinning; 43y: without significant changes, 27y: normal visual evoked potentials, normal : full field electroretinography, abnormal electrooculogram (Arden index); 36y: delayed latency right eye visual evoked potentials, decreased cone and rod ffERG.

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: NGS; MLPA and array CGH

      PreviouslyPublished: n/a

      Variant: c.4457C>T; p.(Pro1486Leu) homozygous

      ClinVar: 99283

      CAID: CA227192

      SupplementalData: supplemental table S2 has phenotype, S4 and S5 have genotype information

      CaseInfo CA227192 Individual ClinVarID: 99283 SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    jmdjournal.org/article/S1525-1578(20)30008-8/fulltext
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
    1
    1. Vibhor 26 Jul 2026
      MD-0170ABCA430c.4457C>Tp.Pro1486Leu9c.1222C>Tp.Arg408*14YesABCR400

      Case#: MD-0170 Proband, 14yo at onset

      DiseaseAssertion: STGD

      FamilyInfo: Family MD-0170

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosed based on "bilateral central vision loss; fundus presenting with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinogram (ERGs)."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: Haplotype analysis, ABCR400

      PreviouslyPublished: unclear

      Variant: c.4457C>T (p.Pro1486Leu); c.1222C>T (p.Arg408*)

      ClinVar: 99283

      CAID: CA227192

      SupplementalData: n/a

      CaseInfo Individual CA227192 ClinVarID: 99283 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC3808491/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
    1
    1. Vibhor 26 Jul 2026
      We found two variants or more in ABCA4 in 69/95 (73%) probands (Supplementary Tables 2, 3); a single ABCA4 variant was found in 9/95 (9.5%) probands with STGD1 phenotype. A second variant could be found in four of these nine patients by Khan et al. (2020) (Figure 1 and Supplementary Tables 2, 4). Therefore, a total of 73/95 (77%) probands of our cohort ended up having two or more ABCA4 variants. In 17/95 (18%) probands, no variant was found in any of the sequenced genes.

      Case#: Patient STG-16, 13yo at onset, Argentina

      DiseaseAssertion: STGD1

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: BCVA=0.7/0.7, FA=3B, AF pattern=2, OCT showed decreased retinal thickness with disruption of external layers

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: NGS of ABCA4 (NM_000350.2), ELOVL4 (NM_022726.3), PROM1 (NM_006017.2), and CNGB3 (NM_019098.4)

      PreviouslyPublished: n/a

      Variant: c.4457C>T (p.Pro1486Leu); c.1804C>T (p.Arg602Trp)

      ClinVar: 99283

      CAID: CA227192

      SupplementalData: supplementary table 2 has genotype/phenotype info

      CA227192 ClinVarID: 99283 CaseInfo Individual SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC8033171/
  5. www.ajo.com www.ajo.com
    Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
    1
    1. Vibhor 26 Jul 2026
      STGD1 was determined according to initial symptoms of VA loss; fundus images showing orange-yellow flecks in the retina, a beaten-bronze appearance; and normal or cone-altered ffERG results

      This variant was found in homozygosity 3 times in table S1 (Families MD-0991, MD-1164, and MD-1302). All with a STGD1 phenotype.

      MD-0991 had onset of VA loss at 25yo, cone-rod pattern on ERG, and BCVA was 1.2/1.2. Segregation was mentioned, but no details provided.

      MD-1164 had onset of VA loss at 42yo, no VF loss, and BCVA was 0.2/0.3. Segregation was not mentioned.

      MD-1302 had no clinical details available.

      GenotypingMethod: Index cases were studied by different next-generation sequencing (NGS) strategies, including targeted gene panels, clinical exome, and/or whole-exome sequencing

      CaseInfo Individual CA227192 ClinVarID: 99283 SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ajo.com/article/S0002-9394(20)30323-8/fulltext