A Rare Case of Central Areolar Choroidal Dystrophy
The aim is to present a rare clinical case of central areolar choroidal dystrophy (CACD), confirmed clinically and electrophysiologically. A 49-year-old man underwent a detailed ophthalmological examination, fundus autofluorescence, fluorescein angiography, optical coherence tomography, visual field...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2022-12-01
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| Series: | Acta Medica Bulgarica |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/amb-2022-0044 |
| _version_ | 1797682349496860672 |
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| author | Mermeklieva E. Vasileva P. |
| author_facet | Mermeklieva E. Vasileva P. |
| author_sort | Mermeklieva E. |
| collection | DOAJ |
| description | The aim is to present a rare clinical case of central areolar choroidal dystrophy (CACD), confirmed clinically and electrophysiologically. A 49-year-old man underwent a detailed ophthalmological examination, fundus autofluorescence, fluorescein angiography, optical coherence tomography, visual field testing, electrophysiological (EF) studies – full-field ERG and multifocal ERG, thanks to which the diagnosis was established. A classic CACD phenotype with slightly reduced visual acuity, central scotomas, atrophy of the outer layers of the retina and the choroid in the macula and hypoautofluorescence in the macula were demonstrated. EF studies showed absence of diffuse photoreceptor involvement. The local mfERG photopic response was slightly reduced. The relatively good functional results and the pronounced anatomical changes are due to the later, secondary involvement of the photoreceptors in the macular area, characteristic of choroidal dystrophies. The comprehensive clinical and EF testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis given the many clinical trials of new innovative therapies for many of these diseases. It is expected that some of them would become curable in the very near future, and we should be prepared when that moment comes. |
| first_indexed | 2024-03-11T23:58:22Z |
| format | Article |
| id | doaj.art-b63c57f303f647a7985ab9e9e741be4d |
| institution | Directory Open Access Journal |
| issn | 2719-5384 |
| language | English |
| last_indexed | 2024-03-11T23:58:22Z |
| publishDate | 2022-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Acta Medica Bulgarica |
| spelling | doaj.art-b63c57f303f647a7985ab9e9e741be4d2023-09-18T06:32:59ZengSciendoActa Medica Bulgarica2719-53842022-12-01494586210.2478/amb-2022-0044A Rare Case of Central Areolar Choroidal DystrophyMermeklieva E.0Vasileva P.1Clinic of Ophthalmology, „Lozenetz” University Hospital, Medical Faculty, Sofia University „Sv. Kliment Ohridski” – Sofia, BulgariaSpecialized Eye Hospital “Acad. Pashev” – Sofia, Bulgarian Academy of Sciences – Sofia, BulgariaThe aim is to present a rare clinical case of central areolar choroidal dystrophy (CACD), confirmed clinically and electrophysiologically. A 49-year-old man underwent a detailed ophthalmological examination, fundus autofluorescence, fluorescein angiography, optical coherence tomography, visual field testing, electrophysiological (EF) studies – full-field ERG and multifocal ERG, thanks to which the diagnosis was established. A classic CACD phenotype with slightly reduced visual acuity, central scotomas, atrophy of the outer layers of the retina and the choroid in the macula and hypoautofluorescence in the macula were demonstrated. EF studies showed absence of diffuse photoreceptor involvement. The local mfERG photopic response was slightly reduced. The relatively good functional results and the pronounced anatomical changes are due to the later, secondary involvement of the photoreceptors in the macular area, characteristic of choroidal dystrophies. The comprehensive clinical and EF testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis given the many clinical trials of new innovative therapies for many of these diseases. It is expected that some of them would become curable in the very near future, and we should be prepared when that moment comes.https://doi.org/10.2478/amb-2022-0044hereditary retinal dystrophycentral areolar choroidal dystrophyelectrophysiologyrare eye disease |
| spellingShingle | Mermeklieva E. Vasileva P. A Rare Case of Central Areolar Choroidal Dystrophy Acta Medica Bulgarica hereditary retinal dystrophy central areolar choroidal dystrophy electrophysiology rare eye disease |
| title | A Rare Case of Central Areolar Choroidal Dystrophy |
| title_full | A Rare Case of Central Areolar Choroidal Dystrophy |
| title_fullStr | A Rare Case of Central Areolar Choroidal Dystrophy |
| title_full_unstemmed | A Rare Case of Central Areolar Choroidal Dystrophy |
| title_short | A Rare Case of Central Areolar Choroidal Dystrophy |
| title_sort | rare case of central areolar choroidal dystrophy |
| topic | hereditary retinal dystrophy central areolar choroidal dystrophy electrophysiology rare eye disease |
| url | https://doi.org/10.2478/amb-2022-0044 |
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