Srinivas Marmamula, V. K. Yelagondula, Rajashekar Varada, R. Khanna
{"title":"Improving access to eye care in low and middle-income countries – challenges, opportunities, and the way forward","authors":"Srinivas Marmamula, V. K. Yelagondula, Rajashekar Varada, R. Khanna","doi":"10.1080/17469899.2023.2281448","DOIUrl":"https://doi.org/10.1080/17469899.2023.2281448","url":null,"abstract":"ABSTRACT Introduction Vision loss is a public health challenge adversely affecting over a billion people worldwide. Low and middle income countries (LMICs) have a disproportionately higher prevalence of vision loss compared to high-income countries. Over 80% of vision loss can be addressed with either spectacles or cataract surgery. Both of these interventions are low cost and cost effective. Despite this, several barriers prevent individuals from accessing eye care. Areas covered This paper covers various elements of access (approachability, acceptability, affordability, availability and appropriateness) and presents barriers that prevent access to eye care services in LMICs. Disease-specific barriers and various models and strategies that address the accessibility challenges are presented with a special reference to the use of technology to improve access. Expert opinion Strategies such as providing free eye care, lowering direct and indirect costs, improve access to cataract surgery. While access-related challenges related to cataract surgery are well studied, there is inadequate information on access to refraction services for refractive errors and other conditions. Future research can focus on addressing this information gap. This can then help develop strategies to address the burden of uncorrected refractive errors and other causes of vision loss and contribute towards achieving universal eye health coverage. Search strategy used A literature search was carried out to identify the relevant articles reporting barriers to seeking eye care in the Medline, CINHAL and PsycINFO databases between 20 and 27 May 2023. From this search, the relevant articles were shortlisted for data extraction.","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139290630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Surgical management of macular holes: techniques, outcomes, and treatment of special cases","authors":"Alexis S. Kassotis, Meera Ramakrishnan, T. Tezel","doi":"10.1080/17469899.2023.2281447","DOIUrl":"https://doi.org/10.1080/17469899.2023.2281447","url":null,"abstract":"ABSTRACT Introduction Full-thickness macular hole is a visually significant condition with a very high surgical anatomical closure rate. Areas covered A literature review was performed focusing on surgical techniques for macular holes. What is known about the underlying anatomy and pathophysiology of macular hole formation is applied to surgical techniques that address the mechanisms for hole closure. Expert opinion While anatomic and functional success can be achieved at high rates, much is yet to be learned about the molecular and microstructural changes resulting from surgical manipulation. These insights will help guide novel techniques for complex cases which still suffer from suboptimal surgical outcomes.","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139290200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Perfluorohexyloctane ophthalmic solution: a review of a prescription treatment for dry eye disease that directly targets tear evaporation","authors":"P. Karpecki, John D. Sheppard","doi":"10.1080/17469899.2023.2275586","DOIUrl":"https://doi.org/10.1080/17469899.2023.2275586","url":null,"abstract":"ABSTRACT Introduction Perfluorohexyloctane (PFHO) ophthalmic solution (brand name, MIEBO) was recently approved by the United States Food and Drug Administration to treat the signs and symptoms of dry eye disease (DED). Unlike most DED treatments, PFHO addresses evaporative DED, which represents the vast majority of DED cases. PFHO may function as a surrogate for the tear film’s lipid layer, inhibiting evaporation. Areas covered This article summarizes data – found via PubMed and clinicaltrials.gov (May 30-1 September 2023) – surrounding PHFO and provides some considerations for its use. Preclinically, PFHO’s unique molecular properties facilitate formation of a layer at the tear film’s air-liquid interface and inhibit saline evaporation by 81%. These properties translate to improved clinical outcomes in DED: in phase 3 studies, 40% to 50% of PFHO-group patients had a ≥ 3-step total corneal fluorescein staining improvement at day 57, and approximately 60% of patients had ≥ 30% reduction in visual analog scale dryness scores, improvements that persisted to 52 weeks. Additionally, PFHO demonstrated a robust safety profile. Expert opinion PFHO is the first prescription eye drop that directly addresses hyperevaporation in DED. PFHO is poised to help fill the large unmet need of patients with evaporative DED, potentially improving patient outcomes and quality of life.","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139291105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Principles of ophthalmic ultrasound","authors":"Ronald H. Silverman","doi":"10.1080/17469899.2023.2277781","DOIUrl":"https://doi.org/10.1080/17469899.2023.2277781","url":null,"abstract":"ABSTRACTIntroduction Ultrasound imaging of the eye was introduced over 50 years ago. While the physical principles of ultrasound imaging have not changed, technology has undergone tremendous and ongoing development.Areas covered The fundamentals of ultrasound physics, biometry (A-scan), structural imaging (B-scan) and blood-flow imaging and measurement (Doppler) will be described. Emphasis will be placed on technological development and potential future advances.Expert opinion While A- and B-scan ultrasound of the eye has traditionally been performed with focused single-element transducers, the introduction of annular and linear arrays has enhanced clinical utility. Future advances, especially in multielement arrays, and point-of-care systems promise amazing new capabilities for diagnostic imaging of the eye and orbit.KEYWORDS: UltrasoundeyeDopplertransducerDisclaimerAs a service to authors and researchers we are providing this version of an accepted manuscript (AM). Copyediting, typesetting, and review of the resulting proofs will be undertaken on this manuscript before final publication of the Version of Record (VoR). During production and pre-press, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal relate to these versions also. Article highlightsMedical diagnostic ultrasound developed in the aftermath of the second world war as a spinoff of Sonar technology used for underwater range finding.While ophthalmic ultrasound has largely been based on mechanically scanned, focused single-element transducer technology, virtually all other clinical specialties use linear array-based systems.Array-based systems allow control of focal depth. Linear arrays offer high scan rates and can provide Doppler to visualize and measure blood-flow.The advantages and decreasing cost of linear array systems is leading towards greater utilization for ophthalmic imaging.While the principles of ultrasound imaging are unchanged, the technology, especially in array-based systems, continues to advance.Declaration of interestR H Silverman has a financial interest in Arcscan, Inc. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.Reviewer disclosuresPeer reviewers on this manuscript have no relevant financial or other relationships to disclose.Figure 1: Left: Plots representing ultrasound waveform of a highly damped (top) and a poorly damped (bottom) transducer of the same wavelength (λ). To the right of each plot is the power spectrum corresponding to each waveform. Bandwidth (usually measured at 50% of maximum spectral power) is inversely related to pulse-length.Display full sizeFigure 2: 1970’s setup for immersion ultrasonography. The probe was pivoted by hand to sweep out a B-scan or held steady for an A-scan while the sh","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135869261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jae-Chiang Wong, Rebecca F. Neustein, Melih Ustaoglu, Eric Shiuey, Nikki Mehran, Marlene R. Moster, Reza Razeghinejad, L. Jay Katz, Jonathan Myers, Daniel Lee
{"title":"The long-term clinical outcomes of latanoprostene bunod 0.024% in glaucoma Treatment at a tertiary glaucoma center.","authors":"Jae-Chiang Wong, Rebecca F. Neustein, Melih Ustaoglu, Eric Shiuey, Nikki Mehran, Marlene R. Moster, Reza Razeghinejad, L. Jay Katz, Jonathan Myers, Daniel Lee","doi":"10.1080/17469899.2023.2275587","DOIUrl":"https://doi.org/10.1080/17469899.2023.2275587","url":null,"abstract":"","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136103558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nesime Setge Tıskaoğlu, Sevim Ayça Seyyar, Gizem Gürbostan Sosyal
{"title":"Are allergic conjunctivitis videos on YouTube a reliable source of information?","authors":"Nesime Setge Tıskaoğlu, Sevim Ayça Seyyar, Gizem Gürbostan Sosyal","doi":"10.1080/17469899.2023.2272050","DOIUrl":"https://doi.org/10.1080/17469899.2023.2272050","url":null,"abstract":"ABSTRACTBackground Social media as well as YouTube are widely used to gain information on medical conditions. We aimed to assess and evaluate the quality and reliability of YouTube videos on ocular allergies and determine whether they are a trustworthy source of information.Research design and methods The first 60 videos from the search terms ‘allergic conjunctivitis’, ‘atopic conjunctivitis’, ‘allergic conjunctivitis symptoms’, and ‘allergic conjunctivitis eye drops’ were analyzed using modified DISCERN, Global Quality Score, Journal of the American Medical Association scores and Health on the Net Code criteria. The total number of views, view ratio, likes, comments, and duration were recorded and videos were evaluated as useful, non-useful, and misleading.Results The average mDISCERN score for the videos was 3.25 ± 0.76 (moderate), the average JAMA score was 2.76 ± 0.64 (intermediate), the average GQS score was 3.13 ± 0.8 (intermediate) and the average HONcode score was 7.8 ± 2.6 (intermediate). The most common video source was health professionals (61.9%).Conclusions Videos on allergic conjunctivitis while having reliable publishers are of moderate quality. Quality regulation of content uploaded on allergic conjunctivitis is needed. Health professionals should try to improve video content and provide more information on the treatment of allergic conjunctivitis.KEYWORDS: Allergic diseasesYouTubeocular allergyallergic conjunctivitismDISCERNJAMAGQS; HONcodeDisclaimerAs a service to authors and researchers we are providing this version of an accepted manuscript (AM). Copyediting, typesetting, and review of the resulting proofs will be undertaken on this manuscript before final publication of the Version of Record (VoR). During production and pre-press, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal relate to these versions also. Declaration of interestsThe authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royaltiesAuthor contribution statement: All authors contributed to the conception and design of the article and interpreting the relevant literature, all authors were involved in writing the article and/or revised it for intellectual content.Reviewer disclosuresPeer reviewers on this manuscript have no relevant financial or other relationships to disclose.Figure 1: Flowchart of selection of videos included in the study.Display full sizeAdditional informationFundingThis paper was not funded.","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135884014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Current concepts and recent updates in the treatment of ocular surface squamous neoplasia","authors":"Bharat Gurnani, Kirandeep Kaur","doi":"10.1080/17469899.2023.2267763","DOIUrl":"https://doi.org/10.1080/17469899.2023.2267763","url":null,"abstract":"ABSTRACTIntroduction Ocular surface squamous neoplasia (OSSN) is a broad pathological entity that includes squamous neoplasm of conjunctival and corneal tissue. These various malignancies include conjunctival intraepithelial neoplasia (CIN), corneal epithelial dysplasia, squamous cell carcinoma (SCC), and mucoepidermoid carcinoma. OSSN diagnosis rests on exfoliative cytology, vital dyes, and imaging in the form of confocal microscopy and anterior segment optical coherence tomography. The medical management modalities are topical chemotherapy (Mitomycin C and 5 fluorouracil), immunotherapy (Interferon alpha 2b), and upcoming drugs, such as antivirals, anti-VEGF, and retinoic acid. Excision biopsy with no touch technique remains the gold standard for managing OSSN. However, surgery can lead to recurrence and unfavorable results in some cases.Areas Covered This article provides insights into the treatment aspects of OSSN with an overview of recent updates. The authors have discussed the current concept regarding the medical and surgical management of OSSN. The authors also dwell upon the recent updates along with the expert opinion.Expert Opinion- Although surgery remains the gold standard, topical drugs have revolutionized the management of OSSN. Patients should be closely followed up to look for any side effects. Cost, time duration, cosmesis, and side are the remaining major factors in deciding for medical versus surgical therapy.KEYWORDS: Ocular surface squamous neoplasiamitomycin C5-fluorouracilinterferon alpha 2bexcision biopsy Article highlights Ocular surface squamous neoplasia (OSSN) is a diverse ocular pathology that includes squamous neoplasm of conjunctival and corneal tissueThe important diagnostic modality includes exfoliative and impression cytology, vital dyes, high resolution anterior segment optical coherence tomography, and confocal microscopy.The medical management options of OSSN can be chemotherapeutic agents and immunotherapy.The gold standard for OSSN management is surgical excision biopsy by no touch technique and cryotherapy to the margins.The recent advances in OSSN management comprises human papilloma virus vaccine, light-activated belzupacap sarotalocan, verteporfin, cidofovir, bevacizumab, retinoic acid, and aloe vera.Declaration of interestsThe authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants, or patents received or pending, or royaltiesReviewer disclosuresPeer reviewers on this manuscript have no relevant financial or other relationships to disclose.Additional informationFundingThis paper was not funded.","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135141515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The impact of lacrimal gland biopsies in current clinical practice","authors":"Steffani Krista Someda, Yasuhiro Takahashi","doi":"10.1080/17469899.2023.2268285","DOIUrl":"https://doi.org/10.1080/17469899.2023.2268285","url":null,"abstract":"KEYWORDS: dacryoadenitisidiopathic orbital inflammationimmunoglobulin G4-related diseaselacrimal gland biopsyorbital lymphoma","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135253563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Deep anterior lamellar keratoplasty for advanced keratoconus: an updated review of indications, techniques and outcomes","authors":"Sepehr Feizi, Niloufar Bineshfar, Helia Ashourizadeh, Mahan Shafie","doi":"10.1080/17469899.2023.2268292","DOIUrl":"https://doi.org/10.1080/17469899.2023.2268292","url":null,"abstract":"ABSTRACTIntroduction The management of keratoconus has been changed significantly due to the advancement of technology in the field of contact lens materials and designs and introduction of new surgical approaches that aim to avoid or postpone corneal transplantation until the advanced stage of the disease. Deep anterior lamellar keratoplasty (DALK) has the advantage of preserving the patient’s own endothelium and eliminating endothelial graft rejection. Since the recent trend is to perform corneal transplantation mainly for severe keratoconus that are not amenable to other less invasive approaches, this review aims to provide an update on the outcomes of DALK in eyes with the advanced stage of keratoconus.Areas covered A comprehensive literature review of studies in English was conducted using the following keywords: “deep anterior lamellar keratoplasty” or “anterior lamellar keratoplasty” or “DALK” and “keratoconus” and “severe” or “advanced.”Expert commentary DALK significantly improves vision and refraction in advanced keratoconus and provides favorable graft survival. Femtosecond laser seems to improve the technique of the DALK procedure, and future developments could improve the reproducibility of DALK even further. However, current data is inconclusive for the benefit of femtosecond laser-assisted DALK for advanced keratoconus.KEYWORDS: Keratoconusadvanced stagecorneal transplantationdeep anterior lamellar keratoplastyDALKDisclaimerAs a service to authors and researchers we are providing this version of an accepted manuscript (AM). Copyediting, typesetting, and review of the resulting proofs will be undertaken on this manuscript before final publication of the Version of Record (VoR). During production and pre-press, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal relate to these versions also. Article highlightsAs surgeons gain more experience and modify their techniques, DALK has emerged as an acceptable alternative to PK for advanced keratoconus when other less invasive approaches have failed to restore vision.Compared to PK, DALK has a superior safety profile as it eliminates the risk of endothelial graft rejection and preserves globe integrity against trauma.Despite improved safety, the visual and refractive outcomes after DALK can be inferior to those achieved after PK in advanced keratoconus eyes.Femtosecond laser has been used for the DALK procedure to increase the rate of successful big-bubble formation, decrease the rate of intraoperative Descemet membrane perforation, and provide better visual and refractive outcomes.Femtosecond laser-assisted DALK in the present form shows limited benefit, therefore, surgical design and parameters still need to be optimized.A medical economics study is required to assess the cost-effectiveness of laser-assisted DALK techniques in this particular subgroup of patients.AbbreviationsAS-OCT=Anterior segment optical coherence tomographyCDVA","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135352555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Advances towards personalized therapies for Stargardt disease","authors":"Di Huang, Sam McLenachan, Fred K. Chen","doi":"10.1080/17469899.2023.2268289","DOIUrl":"https://doi.org/10.1080/17469899.2023.2268289","url":null,"abstract":"ABSTRACTIntroduction ABCA4-associated Stargardt disease (STGD1) leads to bilateral central vision loss and is responsible for 12% of inherited retinal disease-related blindness.The lack of approved treatments highlights the urgent need for effective therapies.Areas covered This review explores personalized treatments for STGD1, focusing on therapeutic alternative splicing, genome editing, and translational read-through technologies. Literature searches as of July 2023 were undertaken via PubMed.Expert opinion Significant progress has been made in sequencing technology revealing the complexities of theABCA4 locus. Comprehensive functional assays now enable the determination of pathogenicity for ABCA4variants of uncertain significance. These breakthroughs facilitate the application of gene expression modulation technologies, ushering in a new era of personalized therapeutics. By targeting the ABCA4 gene and manipulating its expression, tailored treatments can address ABCA4-associated STGD1, offering enhanced efficacy and precise interventions based on the individual’s genetic profile. These advancements provide hope to those affected by STGD1, with improved treatment options and the potential to prevent vision loss. The convergence of genetic analysis breakthroughs and gene expression modulation technologies revolutionizes our understanding and treatment of inherited disorders, unlocking a promising frontier in personalized therapeutics. This transformative approach to STGD1 holds promise for similar breakthroughs in other inherited conditions.KEYWORDS: ABCA4inherited retinal diseasejuvenile macular dystrophypersonalized therapeuticsantisense oligonucleotidestherapeutic alternative splicinggene editingCRISPRbase editorprime editingDisclaimerAs a service to authors and researchers we are providing this version of an accepted manuscript (AM). Copyediting, typesetting, and review of the resulting proofs will be undertaken on this manuscript before final publication of the Version of Record (VoR). During production and pre-press, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal relate to these versions also. Article highlightsAutosomal recessive Stargardt disease (STGD1) is a common monogenic inherited retinal dystrophy that leads to bilateral central vision loss and is responsible for 12% of IRD-related blindness.The spectrum of retinopathy associated with STGD1 includes childhood-onset cone-rod dystrophy, late-onset STGD1 with foveal sparing, and rapid-onset chorioretinopathy phenotype.STGD1 is caused by bi-allelic variants in the ATP-binding cassette transporter subfamily A4 gene (ABCA4) gene, which encodes the ABCA4 protein responsible for importing specific retinoid compounds in photoreceptor cells.Variable accumulation of cytotoxic lipofuscin-related fluorophores, such as A2E, is determined by combined deleterious effect of the biallelic ABCA4 variants and contributes to phenotypic varia","PeriodicalId":39989,"journal":{"name":"Expert Review of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135351195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}