Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
Focal choroidal excavation (FCE) refers to one or more areas of localized choroidal excavation seen on spectral-domain optical coherence tomography, in the absence of a posterior staphyloma or scleral ectasia. A case of unilateral FCE in a 17-year-old male with autosomal recessive bestrophinopathy (...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Journal of Clinical Ophthalmology and Research |
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| Online Access: | https://journals.lww.com/10.4103/jcor.jcor_144_24 |
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| author | Neha Goel |
| author_facet | Neha Goel |
| author_sort | Neha Goel |
| collection | DOAJ |
| description | Focal choroidal excavation (FCE) refers to one or more areas of localized choroidal excavation seen on spectral-domain optical coherence tomography, in the absence of a posterior staphyloma or scleral ectasia. A case of unilateral FCE in a 17-year-old male with autosomal recessive bestrophinopathy (ARB) is described with multimodal imaging findings. ARB is a rare inherited retinal dystrophy resulting from mutations in the BEST1 gene. We present the clinical and imaging findings of this unusual association. |
| format | Article |
| id | doaj-art-7677345c80104f48aee35cd65f5ef774 |
| institution | Kabale University |
| issn | 2320-3897 2320-3900 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical Ophthalmology and Research |
| spelling | doaj-art-7677345c80104f48aee35cd65f5ef7742025-02-06T06:38:53ZengWolters Kluwer Medknow PublicationsJournal of Clinical Ophthalmology and Research2320-38972320-39002025-01-0113113413510.4103/jcor.jcor_144_24Unilateral focal choroidal excavation in autosomal recessive bestrophinopathyNeha GoelFocal choroidal excavation (FCE) refers to one or more areas of localized choroidal excavation seen on spectral-domain optical coherence tomography, in the absence of a posterior staphyloma or scleral ectasia. A case of unilateral FCE in a 17-year-old male with autosomal recessive bestrophinopathy (ARB) is described with multimodal imaging findings. ARB is a rare inherited retinal dystrophy resulting from mutations in the BEST1 gene. We present the clinical and imaging findings of this unusual association.https://journals.lww.com/10.4103/jcor.jcor_144_24autosomal recessive bestrophinopathyfocal choroidal excavationspectral-domain optical coherence tomography |
| spellingShingle | Neha Goel Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy Journal of Clinical Ophthalmology and Research autosomal recessive bestrophinopathy focal choroidal excavation spectral-domain optical coherence tomography |
| title | Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| title_full | Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| title_fullStr | Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| title_full_unstemmed | Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| title_short | Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| title_sort | unilateral focal choroidal excavation in autosomal recessive bestrophinopathy |
| topic | autosomal recessive bestrophinopathy focal choroidal excavation spectral-domain optical coherence tomography |
| url | https://journals.lww.com/10.4103/jcor.jcor_144_24 |
| work_keys_str_mv | AT nehagoel unilateralfocalchoroidalexcavationinautosomalrecessivebestrophinopathy |