Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases
Background. To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. Methods. Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations inc...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2021/6674290 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832547018828939264 |
|---|---|
| author | Hassan Khojasteh Mohsen Azarmina Nazanin Ebrahimiadib Narsis Daftarian Hamid Riazi-Esfahani Houra Naraghi Hamideh Sabbaghi Alireza Khodabande Hooshang Faghihi Afrooz Moghaddasi Fatemeh Bazvand Masoud Reza Manaviat Hamid Ahmadieh Narges Hassanpoor Fatemeh Suri |
| author_facet | Hassan Khojasteh Mohsen Azarmina Nazanin Ebrahimiadib Narsis Daftarian Hamid Riazi-Esfahani Houra Naraghi Hamideh Sabbaghi Alireza Khodabande Hooshang Faghihi Afrooz Moghaddasi Fatemeh Bazvand Masoud Reza Manaviat Hamid Ahmadieh Narges Hassanpoor Fatemeh Suri |
| author_sort | Hassan Khojasteh |
| collection | DOAJ |
| description | Background. To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. Methods. Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, enhanced depth imaging optical coherence tomography (EDI-OCT), fluorescein angiography (FA), electroretinography (ERG), and electrooculography (EOG). Optical coherence tomography angiography (OCTA) and BEST1 gene sequencing were performed in selected patients. Results. The age at onset was 4–35 years (mean: 18.6 years). The male-to-female ratio was 0.45. All patients were hyperopic, except one with less than one diopter myopia. EOG was abnormal in 18 cases with near-normal ERGs. Six patients did not undergo EOG due to their young age. Eighteen patients (75%) had a thick choroid on EDI-OCT, of which three had advanced angle-closure glaucoma, 15 patients were hyperopic, and eight of them had more than four diopters hyperopia in both eyes. Macular retinoschisis was observed in 46 eyes of 23 patients (95%) with cysts mostly located in the inner nuclear layer (INL) to the outer nuclear layer (ONL). Of the 18 patients who underwent FA, mild peripheral leakage was seen in eight eyes of four patients (22%). Subfoveal choroidal neovascularization (CNV) was seen in three eyes of two patients (6%) that responded well to intravitreal bevacizumab (IVB). Seven mutations of the bestrophin-1 (BEST1) gene were found in this study; however, only two of them (p.Gly34 = and p.Leu319Pro) had been previously reported as the cause of ARB based on ClinVar and other literature studies. Conclusions. ARB can be presented with a wide spectrum of ocular abnormalities that may not be easily diagnosed. Pachychoroid can occur alongside retinal schisis and may be the underlying cause of angle-closure glaucoma in ARB. Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB. |
| format | Article |
| id | doaj-art-792c06e3c20a4cca9f248f08eed5a8c6 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-792c06e3c20a4cca9f248f08eed5a8c62025-02-03T06:46:15ZengWileyJournal of Ophthalmology2090-004X2090-00582021-01-01202110.1155/2021/66742906674290Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four CasesHassan Khojasteh0Mohsen Azarmina1Nazanin Ebrahimiadib2Narsis Daftarian3Hamid Riazi-Esfahani4Houra Naraghi5Hamideh Sabbaghi6Alireza Khodabande7Hooshang Faghihi8Afrooz Moghaddasi9Fatemeh Bazvand10Masoud Reza Manaviat11Hamid Ahmadieh12Narges Hassanpoor13Fatemeh Suri14Retina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranRetina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranOcular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranRetina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranNational Institute of Genetic Engineering and Biotechnology, Tehran, IranOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranRetina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranRetina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranRetina & Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Ophthalmology, Shahid Sadoughi University of Medical Sciences, Yazd, IranOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Ophthalmology, Tabriz University of Medical Sciences, Tabriz, IranOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranBackground. To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. Methods. Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, enhanced depth imaging optical coherence tomography (EDI-OCT), fluorescein angiography (FA), electroretinography (ERG), and electrooculography (EOG). Optical coherence tomography angiography (OCTA) and BEST1 gene sequencing were performed in selected patients. Results. The age at onset was 4–35 years (mean: 18.6 years). The male-to-female ratio was 0.45. All patients were hyperopic, except one with less than one diopter myopia. EOG was abnormal in 18 cases with near-normal ERGs. Six patients did not undergo EOG due to their young age. Eighteen patients (75%) had a thick choroid on EDI-OCT, of which three had advanced angle-closure glaucoma, 15 patients were hyperopic, and eight of them had more than four diopters hyperopia in both eyes. Macular retinoschisis was observed in 46 eyes of 23 patients (95%) with cysts mostly located in the inner nuclear layer (INL) to the outer nuclear layer (ONL). Of the 18 patients who underwent FA, mild peripheral leakage was seen in eight eyes of four patients (22%). Subfoveal choroidal neovascularization (CNV) was seen in three eyes of two patients (6%) that responded well to intravitreal bevacizumab (IVB). Seven mutations of the bestrophin-1 (BEST1) gene were found in this study; however, only two of them (p.Gly34 = and p.Leu319Pro) had been previously reported as the cause of ARB based on ClinVar and other literature studies. Conclusions. ARB can be presented with a wide spectrum of ocular abnormalities that may not be easily diagnosed. Pachychoroid can occur alongside retinal schisis and may be the underlying cause of angle-closure glaucoma in ARB. Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB.http://dx.doi.org/10.1155/2021/6674290 |
| spellingShingle | Hassan Khojasteh Mohsen Azarmina Nazanin Ebrahimiadib Narsis Daftarian Hamid Riazi-Esfahani Houra Naraghi Hamideh Sabbaghi Alireza Khodabande Hooshang Faghihi Afrooz Moghaddasi Fatemeh Bazvand Masoud Reza Manaviat Hamid Ahmadieh Narges Hassanpoor Fatemeh Suri Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases Journal of Ophthalmology |
| title | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases |
| title_full | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases |
| title_fullStr | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases |
| title_full_unstemmed | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases |
| title_short | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases |
| title_sort | autosomal recessive bestrophinopathy clinical and genetic characteristics of twenty four cases |
| url | http://dx.doi.org/10.1155/2021/6674290 |
| work_keys_str_mv | AT hassankhojasteh autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT mohsenazarmina autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT nazaninebrahimiadib autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT narsisdaftarian autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT hamidriaziesfahani autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT houranaraghi autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT hamidehsabbaghi autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT alirezakhodabande autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT hooshangfaghihi autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT afroozmoghaddasi autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT fatemehbazvand autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT masoudrezamanaviat autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT hamidahmadieh autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT nargeshassanpoor autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases AT fatemehsuri autosomalrecessivebestrophinopathyclinicalandgeneticcharacteristicsoftwentyfourcases |