{"title":"On the Temporal Relationship Between Retinal Microvasculature and Age-Related Eye Diseases: A Valuable Advance With Clinical Implications.","authors":"Jie Yao, Haiyu Li, Guanghui Liu","doi":"10.1111/ceo.70065","DOIUrl":"https://doi.org/10.1111/ceo.70065","url":null,"abstract":"","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>While AMD is a complex, age-associated degenerative disease, influenced by multiple environmental and polygenic risk factors, IRDs are typically mono- or oligogenic conditions that follow Mendelian inheritance and frequently appear earlier in life or with unusual clinical characteristics. Accurate differentiation between inherited retinal diseases (IRDs) and age-related macular degeneration (AMD) has never been as clinically consequential as it is today. Advances in genetic diagnostics, rapidly expanding therapeutic options for geographic atrophy (GA), and an increasing number of gene-directed treatments for IRDs all demand precise diagnostic classification. Misdiagnosis is no longer a benign error—it has tangible consequences for patient management, prognosis, and treatment eligibility.</p><p>It can lead to inappropriate management, missed opportunities for genetic counselling, and incorrect prognostic information for patients and families [<span>1-3</span>].</p><p>When macular pathology presents with unusual atrophic changes, distinguishing inherited retinal diseases (IRDs) from age-related macular degeneration (AMD) can be challenging; several diagnostic “red flags” have been defined to assist in making this distinction. Key clinical features that increase the likelihood of IRD include symptom onset before age 50, positive family history, distinctive autofluorescence patterns, extensive atrophy and absence of all types of sub-RPE drusen as highlighted in a study by Britten Jones et al. published in this issue of Clinical and Experimental Ophthalmology [<span>4</span>]. The presence of these warning signs should prompt a careful re-evaluation of the patient's diagnosis, including a detailed review of clinical history, family history, and all available imaging modalities—such as optical coherence tomography (OCT) and fundus autofluorescence (FAF)—and should further warrant consideration of targeted genetic testing.</p><p>On OCT, AMD is characterised by drusen, pigment epithelial detachments, and GA with outer retinal and RPE loss. Drusen appear as dome-shaped, hyperreflective sub-RPE elevations. In contrast, IRDs such as Stargardt disease (<i>ABCA4</i>), Best disease (<i>BEST1</i>), and pattern dystrophies (<i>PRPH2</i>) show distinct deposits (e.g., flecks or vitelliform lesions) and more variable patterns of atrophy that often extend beyond the macula. Some dystrophies, including Malattia Leventinese, mimic drusen but typically present earlier and in a characteristic radial or honeycomb arrangement. On FAF, AMD-related GA appears as hypoautofluorescent areas with variable perilesional patterns, whereas IRDs frequently demonstrate more diffuse or peripheral involvement [<span>5-7</span>]. Central areolar choroidal dystrophy (CACD), usually linked to <i>PRPH2</i>, can be differentiated by the absence of drusen and its speckled FAF signature [<span>8</span>].</p><p>A thorough evaluation of whether the phenotype aligns with AMD is essential. Th
{"title":"Distinguishing Inherited Retinal Disease From Age-Related Macular Degeneration: Clinical Red Flags, Diagnostic Strategy, and the Expanding Role of Genetic Testing","authors":"Ditta Zobor, Marion R. Munk","doi":"10.1111/ceo.70055","DOIUrl":"10.1111/ceo.70055","url":null,"abstract":"<p>While AMD is a complex, age-associated degenerative disease, influenced by multiple environmental and polygenic risk factors, IRDs are typically mono- or oligogenic conditions that follow Mendelian inheritance and frequently appear earlier in life or with unusual clinical characteristics. Accurate differentiation between inherited retinal diseases (IRDs) and age-related macular degeneration (AMD) has never been as clinically consequential as it is today. Advances in genetic diagnostics, rapidly expanding therapeutic options for geographic atrophy (GA), and an increasing number of gene-directed treatments for IRDs all demand precise diagnostic classification. Misdiagnosis is no longer a benign error—it has tangible consequences for patient management, prognosis, and treatment eligibility.</p><p>It can lead to inappropriate management, missed opportunities for genetic counselling, and incorrect prognostic information for patients and families [<span>1-3</span>].</p><p>When macular pathology presents with unusual atrophic changes, distinguishing inherited retinal diseases (IRDs) from age-related macular degeneration (AMD) can be challenging; several diagnostic “red flags” have been defined to assist in making this distinction. Key clinical features that increase the likelihood of IRD include symptom onset before age 50, positive family history, distinctive autofluorescence patterns, extensive atrophy and absence of all types of sub-RPE drusen as highlighted in a study by Britten Jones et al. published in this issue of Clinical and Experimental Ophthalmology [<span>4</span>]. The presence of these warning signs should prompt a careful re-evaluation of the patient's diagnosis, including a detailed review of clinical history, family history, and all available imaging modalities—such as optical coherence tomography (OCT) and fundus autofluorescence (FAF)—and should further warrant consideration of targeted genetic testing.</p><p>On OCT, AMD is characterised by drusen, pigment epithelial detachments, and GA with outer retinal and RPE loss. Drusen appear as dome-shaped, hyperreflective sub-RPE elevations. In contrast, IRDs such as Stargardt disease (<i>ABCA4</i>), Best disease (<i>BEST1</i>), and pattern dystrophies (<i>PRPH2</i>) show distinct deposits (e.g., flecks or vitelliform lesions) and more variable patterns of atrophy that often extend beyond the macula. Some dystrophies, including Malattia Leventinese, mimic drusen but typically present earlier and in a characteristic radial or honeycomb arrangement. On FAF, AMD-related GA appears as hypoautofluorescent areas with variable perilesional patterns, whereas IRDs frequently demonstrate more diffuse or peripheral involvement [<span>5-7</span>]. Central areolar choroidal dystrophy (CACD), usually linked to <i>PRPH2</i>, can be differentiated by the absence of drusen and its speckled FAF signature [<span>8</span>].</p><p>A thorough evaluation of whether the phenotype aligns with AMD is essential. Th","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":"54 1","pages":"3-5"},"PeriodicalIF":5.6,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ceo.70055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Christopher A. Ovens, John R. Grigg, Clare L. Fraser
{"title":"Visual Acuity Alone Is Not Enough: The Need for Multimodal Biomarkers in Dominant Optic Atrophy—Response","authors":"Christopher A. Ovens, John R. Grigg, Clare L. Fraser","doi":"10.1111/ceo.70043","DOIUrl":"10.1111/ceo.70043","url":null,"abstract":"","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":"54 1","pages":"167-168"},"PeriodicalIF":5.6,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reflections on the Safety and Stability of the Second-Generation Suprachoroidal Retinal Prosthesis","authors":"Ying Wei, Zhenggao Xie","doi":"10.1111/ceo.70027","DOIUrl":"10.1111/ceo.70027","url":null,"abstract":"","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":"54 1","pages":"169-170"},"PeriodicalIF":5.6,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rethinking the Long-Term Degradation of Crosslinked Gelatin Stents","authors":"Ying Wei, Yajun Liu","doi":"10.1111/ceo.70026","DOIUrl":"10.1111/ceo.70026","url":null,"abstract":"","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":"54 1","pages":"174-175"},"PeriodicalIF":5.6,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reconsidering the Drivers of Macular Atrophy Under Chronic Anti-VEGF Therapy.","authors":"Wenjie Li, Ziyu Du, Huixin Tao, Yang Liu","doi":"10.1111/ceo.70023","DOIUrl":"https://doi.org/10.1111/ceo.70023","url":null,"abstract":"","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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