Focal choroidal excavation in Stargardt’s dystrophy
PMID: 32843395
Gene: ABCA4
Disease: Stargardt
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
PMID: 35120629
Gene: ABCA4
Disease: Stargardt disease
PAPER USED TO SCORE PS4
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
PMID: 12796258
Gene: ABCA4
Disease: autosomal recessive cone-rod dystrophy
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene
PMID: 23949494 HGNC: 34 Gene: ABCA4 DiseaseAssertion: Stargardt Disease
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Functional Analysis and Classification of Homozygous and Hypomorphic ABCA4 Variants Associated with Stargardt Macular Degeneration
PMID: 32845050
Gene: ABCA4
Disease: Stargardt Macular Degeneration
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Molecular testing for hereditary retinal disease as part of clinical care
PMID: 17296903
Gene: ABCA4
Disease: hereditary retinal disease
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www.e-mjm.org www.e-mjm.org
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An uncommon case of retinitis pigmentosa patients basedon clinical and genetic studyAyudha Bahana Bahana Ilham Perdamaian, MSc2, Dewi Kartikawati Paramita, PhD3, Riris Istighfari Jenie,PhD4, Supanji Supanji, PhD11Universitas Gadjah Mada Fakultas Kedokteran Kesehatan Masyarakat dan Keperawatan, 2Doctorate Program of Health andMedicine Science, Faculty of Medicine, Public Health, and Nurse, Universitas Gadjah Mada, Yogyakarta, Indonesia. Departmentof Ophthalmology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, 3Department of Histology andMolecular Biology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia,Integrated Research Laboratory, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakar,4Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Gadjah Mada University, Yogyakarta, IndonesiaCASE REPORTThis article was accepted: 25 August 2024Corresponding Author: Supanji SupanjiEmail: supanji@ugm.ac.id19-An uncommon00304.qxp_3-PRIMARY.qxd 29/08/2024 3:47 PM Page 98
PMID:39215425
Gene: ABCA4
HGNC ID: 34
case27-year-old male, the brother of case 1
DiseaseAssertion: Table 1 The summary of the clinical assessment of IRD patients’ family in this research fro there down they did a whole pannel on the family
Pedigree one can be fore form the beggginnings of case presention section?
CasePresentingHPOs: Case 2, a 27-year-old male, the brother of case 1 had blurry vision which was not corrected with an eyeglass and inconveniences under bright light starting from 14 years ago. Case 2 also underwent a fundus examination after finding that case 1 was RP. In further examination of those patients and their family members found that case 1 was confirmed as RP and case 2
CaseHPOFreeText:NA
CaseNotHPOs:NA
CaseNotHPOFreeText:NA
Genotyping Method:NA
PreviouslyPublished:NA
Variant:NA
ClinVar:
CAID:NA
SupplementalData:NA
Inheritance pattern Autosomal Recessive
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