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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Al-Khuzaei, Saoud Hudspith, Karl A. Z. Broadgate, Suzanne Shanks, Morag E. Clouston, Penny Németh, Andrea H. Halford, Stephanie Downes, Susan M. |
| Abstract | Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. Case presentation A 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members. Conclusions We describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis. |
| Related Links | https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-021-01919-1.pdf |
| Ending Page | 8 |
| Page Count | 8 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712415 |
| DOI | 10.1186/s12886-021-01919-1 |
| Journal | BMC Ophthalmology |
| Issue Number | 1 |
| Volume Number | 21 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2021-04-09 |
| Access Restriction | Open |
| Subject Keyword | Ophthalmology Retina Macular dystrophy Next generation sequencing CRX ABCA4 sequence variant mutation Phenotype/genotype reduced penetrance family survey |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Ophthalmology |
| Journal Impact Factor | 1.7/2023 |
| 5-Year Journal Impact Factor | 2/2023 |
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