The Role of the Choroid in Stargardt Disease
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly cri...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-07-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/23/14/7607 |
| _version_ | 1797446557115613184 |
|---|---|
| author | Solmaz Abdolrahimzadeh Martina Formisano Mariachiara Di Pippo Manuel Lodesani Andrew John Lotery |
| author_facet | Solmaz Abdolrahimzadeh Martina Formisano Mariachiara Di Pippo Manuel Lodesani Andrew John Lotery |
| author_sort | Solmaz Abdolrahimzadeh |
| collection | DOAJ |
| description | Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease. |
| first_indexed | 2024-03-09T13:43:12Z |
| format | Article |
| id | doaj.art-594d399112064754b8a4fa01f241df6d |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T13:43:12Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-594d399112064754b8a4fa01f241df6d2023-11-30T21:04:07ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-07-012314760710.3390/ijms23147607The Role of the Choroid in Stargardt DiseaseSolmaz Abdolrahimzadeh0Martina Formisano1Mariachiara Di Pippo2Manuel Lodesani3Andrew John Lotery4Ophthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Rome, ItalySt. Maria della Misericordia Hospital, Viale Tre Martiri 140, 45100 Rovigo, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Rome, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Rome, ItalyClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UKStargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.https://www.mdpi.com/1422-0067/23/14/7607Stargardt diseaseretinal dystrophyspectral domain optical coherence tomographychoroidal vascularity indexchoriocapillaris vascular densitychoroidal thickness |
| spellingShingle | Solmaz Abdolrahimzadeh Martina Formisano Mariachiara Di Pippo Manuel Lodesani Andrew John Lotery The Role of the Choroid in Stargardt Disease International Journal of Molecular Sciences Stargardt disease retinal dystrophy spectral domain optical coherence tomography choroidal vascularity index choriocapillaris vascular density choroidal thickness |
| title | The Role of the Choroid in Stargardt Disease |
| title_full | The Role of the Choroid in Stargardt Disease |
| title_fullStr | The Role of the Choroid in Stargardt Disease |
| title_full_unstemmed | The Role of the Choroid in Stargardt Disease |
| title_short | The Role of the Choroid in Stargardt Disease |
| title_sort | role of the choroid in stargardt disease |
| topic | Stargardt disease retinal dystrophy spectral domain optical coherence tomography choroidal vascularity index choriocapillaris vascular density choroidal thickness |
| url | https://www.mdpi.com/1422-0067/23/14/7607 |
| work_keys_str_mv | AT solmazabdolrahimzadeh theroleofthechoroidinstargardtdisease AT martinaformisano theroleofthechoroidinstargardtdisease AT mariachiaradipippo theroleofthechoroidinstargardtdisease AT manuellodesani theroleofthechoroidinstargardtdisease AT andrewjohnlotery theroleofthechoroidinstargardtdisease AT solmazabdolrahimzadeh roleofthechoroidinstargardtdisease AT martinaformisano roleofthechoroidinstargardtdisease AT mariachiaradipippo roleofthechoroidinstargardtdisease AT manuellodesani roleofthechoroidinstargardtdisease AT andrewjohnlotery roleofthechoroidinstargardtdisease |