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.

The Role of the Choroid in Stargardt Disease / Abdolrahimzadeh, Solmaz; Formisano, Martina; DI PIPPO, Mariachiara; Lodesani, Manuel; John Lotery, Andrew. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 23:14(2022), p. 7607. [10.3390/ijms23147607]

The Role of the Choroid in Stargardt Disease

Solmaz Abdolrahimzadeh
Primo
;
Martina Formisano;Mariachiara Di Pippo;Manuel Lodesani;
2022

Abstract

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.
2022
Stargardt disease; choriocapillaris vascular density; choroidal thickness; choroidal vascularity index; enhanced depth imaging; fluorescein angiography; indocyanine green angiography; optical coherence tomography angiography; retinal dystrophy; spectral domain optical coherence tomography; Fluorescein Angiography; Humans; Tomography, Optical Coherence; ATP-Binding Cassette Transporters; Choroid; Retinal Pigment Epithelium; Stargardt Disease
01 Pubblicazione su rivista::01d Recensione
The Role of the Choroid in Stargardt Disease / Abdolrahimzadeh, Solmaz; Formisano, Martina; DI PIPPO, Mariachiara; Lodesani, Manuel; John Lotery, Andrew. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 23:14(2022), p. 7607. [10.3390/ijms23147607]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1654401
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 1
social impact