دورية أكاديمية
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
| العنوان: | Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. |
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| المؤلفون: | Fishman GA; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 60612, USA. gerafish@uic.edu, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR |
| المصدر: | Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 1999 Apr; Vol. 117 (4), pp. 504-10. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Medical Association Country of Publication: United States NLM ID: 7706534 Publication Model: Print Cited Medium: Print ISSN: 0003-9950 (Print) Linking ISSN: 00039950 NLM ISO Abbreviation: Arch Ophthalmol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Chicago, IL : American Medical Association |
| مواضيع طبية MeSH: | Genetic Variation*, ATP-Binding Cassette Transporters/*genetics , Macular Degeneration/*genetics, Adult ; Aged ; Child ; Electroretinography ; Female ; Fluorescein Angiography ; Humans ; Macular Degeneration/pathology ; Male ; Middle Aged ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Visual Field Tests ; Visual Fields |
| مستخلص: | Objective: To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene. Patients: Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. Methods: Patients underwent a routine ocular examination, including slitlamp biomicroscopy and a dilated fundus examination. Fluorescein angiography was performed on 22 patients, and electroretinographic measurements were obtained on 24 of 29 patients. Kinetic visual fields were measured with a Goldmann perimeter in 26 patients. Single-strand conformation polymorphism analysis and DNA sequencing were used to identify variations in coding sequences of the ABCR gene. Results: Three clinical phenotypes were observed among these 29 patients. In phenotype I, 9 of 12 patients had a sequence change in exon 42 of the ABCR gene in which the amino acid glutamic acid was substituted for glycine (Gly1961Glu). In only 4 of these 9 patients was a second possible disease-causing mutation found on the other ABCR allele. In addition to an atrophic-appearing macular lesion, phenotype I was characterized by localized perifoveal yellowish white flecks, the absence of a dark choroid, and normal electroretinographic amplitudes. Phenotype II consisted of 10 patients who showed a dark choroid and more diffuse yellowish white flecks in the fundus. None exhibited the Gly1961Glu change. Phenotype III consisted of 7 patients who showed extensive atrophic-appearing changes of the retinal pigment epithelium. Electroretinographic cone and rod amplitudes were reduced. One patient showed the Gly1961Glu change. Conclusions: A wide variation in clinical phenotype can occur in patients with sequence changes in the ABCR gene. In individual patients, a certain phenotype seems to be associated with the presence of a Gly1961Glu change in exon 42 of the ABCR gene. Clinical Relevance: The identification of correlations between specific mutations in the ABCR gene and clinical phenotypes will better facilitate the counseling of patients on their visual prognosis. This information will also likely be important for future therapeutic trials in patients with Stargardt dystrophy. |
| معلومات مُعتمدة: | EY10539 United States EY NEI NIH HHS |
| المشرفين على المادة: | 0 (ABCA4 protein, human) 0 (ATP-Binding Cassette Transporters) |
| تواريخ الأحداث: | Date Created: 19990417 Date Completed: 19990416 Latest Revision: 20220408 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1001/archopht.117.4.504 |
| PMID: | 10206579 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0003-9950 |
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| DOI: | 10.1001/archopht.117.4.504 |