Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis
| العنوان: | Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis |
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| المؤلفون: | Zhihang Cheng, Richard P. Hagan, Damien C. M. Yeo |
| المصدر: | Ophthalmic Genetics. 43:253-257 |
| بيانات النشر: | Informa UK Limited, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Adolescent, genetic structures, Retinoschisis, Nerve Tissue Proteins, Compound heterozygosity, Macular Degeneration, Atrophy, Ophthalmology, Electroretinography, Humans, Medicine, Missense mutation, Eye Proteins, Genetics (clinical), CRB1, business.industry, Membrane Proteins, Macular dystrophy, medicine.disease, eye diseases, Mutation, Pediatrics, Perinatology and Child Health, Maculopathy, sense organs, business, Erg |
| الوصف: | PURPOSE To report a novel CRB1 variant responsible for autosomal recessive foveal retinoschisis and its associated clinical and electrophysiological data. METHODS A case report. RESULTS A 15-year-old boy has foveal retinoschisis similar to those seen in X-linked retinoschisis (XLRS). During follow-up, we observed the co-existence of foveoschitic changes and parafoveal macular atrophy. Molecular genetic testing identified compound heterozygous variants in the CRB1 gene, including a novel variant, c.3878 G > A, predicted to disrupt the normal translation of CRB1 and a previously reported likely pathogenic mutation, c.498_506del. Full-field electroretinograms (ERG) were normal but multifocal ERG showed focal reduced waveform amplitude corresponding to the area of atrophy. CONCLUSIONS A novel missense variant existing in a compound heterozygous state was identified. Biallelic CRB1 mutations can cause anatomical fovea disruption similar to XLRS but have very different electroretinogram findings. This case report enhances our understanding of the spectrum of biallelic CRB1 mutations. |
| تدمد: | 1744-5094 1381-6810 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910d60c0e3bebabc55fb1132ab3341af https://doi.org/10.1080/13816810.2021.1998551 |
| رقم الأكسشن: | edsair.doi.dedup.....910d60c0e3bebabc55fb1132ab3341af |
| قاعدة البيانات: | OpenAIRE |
PDF full text from Publisher | تدمد: | 17445094 13816810 |
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