ABCA4 p.Gln1029*
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c.3085C>T
,
p.Gln1029*
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, not provided
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[hide] Phenotypic spectrum of autosomal recessive cone-ro... Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5. Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5., [PMID:12037008]
Abstract [show]
PURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene. METHODS: The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were reviewed after molecular analysis revealed mutations in the ABCA4 gene. RESULTS: In two of the patients both the photopic and scotopic electroretinogram were nonrecordable. In the remainder, the photopic cone b-wave amplitudes appeared to be more seriously affected than the scotopic rod b-wave amplitudes. Although the clinical presentation was heterogeneous, all patients experienced visual loss early in life, impaired color vision, and a central scotoma. Fundoscopy revealed evidence of early-onset maculopathy, sometimes accompanied by involvement of the retinal periphery in the later stages of the disease. CONCLUSIONS: Mutations in the ABCA4 gene are the pathologic cause of the CRD-like dystrophy in these patients, and the resultant clinical pictures are complex and heterogeneous. Given this wide clinical spectrum of CRD-like phenotypes associated with ABCA4 mutations, detailed clinical subclassifications are difficult and may not be very useful.
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No. Sentence Comment
111 A patient with RP who was homozygous for the IVS30ϩ1G3T mutation has been described,12 whereas the Q1029X mutation has not been described.
X
ABCA4 p.Gln1029* 12037008:111:105
status: NEW