CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
PMID: 30204727
Gene: ABCA4
HGNC ID: 34
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A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
PMID: 37628710
Gene: ABCA4
HGNC ID: 34
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www.tandfonline.com www.tandfonline.com
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WDR19-associated retinopathy presenting with adult-onset Stargardt-likephenotype
PMID:39967245
Gene: ABCA4
HGNC ID: 34
Case#:39 man
DiseaseAssertion:NA
FamilyInfo:NA
CasePresentingHPOs:Snellen in both eye, visual impairment with night blindnessisual acuity was 20/20Snellen in both eyes, with a minor correction for astig-matism. The anterior segment and intraocular pressurewere within normal limits. On fundus examination, dif-fuse fleck-like lesions were scattered both inside and out-side the arcades, while sharply demarcated areas ofmacular atrophy with foveal sparing, more pronouncedin the left eye, were visible.
CaseHPOFreeText:NA
CaseNotHPOs:NA
CaseNotHPOFreeText:
Genotyping Method:Next-Generation Sequencing (NGS), using theTruSight One Clinical Exome sequencing panel on anIllumina NexSeq500 platform, enriching for 4800 genesincluding ABCA4, CNGB3, ELOVL4, PROM1, and PRPH2
PreviouslyPublished:Under refernces?
Variant:WDR19 variants:the novel deletion at c.1777 + 1 within the donor splicingsite (class 4) and the rare c.1430 G>T variant causing theamino-acid substitution p.(Arg477Leu) (class 3) in the putative protein. Additionally, a heterozygous c.1793A>G(class 3) variant in the CDH23 gene was found, though it was deemed as not contributive to the patient’s clinical phenotype. All reported variants were confirmed throughSanger sequencing
ClinVar:NA
CAID:NA
SupplementalData:NA
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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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