Image credits

Figure 1F, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.

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Figure 1A, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.

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Cropped within panel A to both hands and wrists; no other visual changes.

Figure 1G, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.

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Lin Z-B et al. (2023). Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. BMC Ophthalmology 23:446. Figure 2a, upper eyelid photographs. © The Author(s) 2023.

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Figure 1, Fu et al. (2024). Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.

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Fu Y, Yu H, Zhang J, Zhou N (2024). Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review. BMC Ophthalmology 24:81. Figure 3a. © The Author(s) 2024.

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Figure 2, Fu et al. (2024). Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.

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Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, Broomfield A, Woodall A, Wilcox G, Sergouniotis PI, Black GC (2023). Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy. Orphanet Journal of Rare Diseases 18:265. Figure 1A, left colour fundus photograph.

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Zahir F, Tahri H (2014). A Christmas tree cataract. Pan African Medical Journal 18:332. Figure 1, panels A and B. © Fadoua Zahir et al.

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Leeuwenberg KE, Bruijnes JE, Karnebeek I, Smulders F, Altena-Rensen S, Gorissen-Brouwers CML, Klinkenberg S, Faber CG, Braakman H, Mul K (2025). The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1. Orphanet Journal of Rare Diseases 20:427. Figure 1.

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Saket Y. Maheshwari; Swarupa Chakole. A Rare Occurrence of Stargardt Disease in a Quadragenarian Adult. Cureus 2022. Figure 3a.

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José J. López-Fontanet; Gabriel Guardiola Dávila; Natalio Izquierdo; Armando Oliver. Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation. Cureus 2024. Figure 3, panels A and B.

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Saket Y. Maheshwari; Swarupa Chakole. A Rare Occurrence of Stargardt Disease in a Quadragenarian Adult. Cureus 2022. Figure 3b.

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Huang J, Nie K, Lv X, Liu Y, Yang G, Fu J, Liu L and Lv H (2023). Abnormal lens thickening in a child with Weill–Marchesani syndrome 4: A 3-year follow-up case report. Frontiers in Medicine 9:1021489. Figure 1A, upper slit-lamp photograph. © 2023 Huang, Nie, Lv, Liu, Yang, Fu, Liu and Lv.

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Figure 1D left column, Huang et al. (2023). Abnormal lens thickening in a child with Weill–Marchesani syndrome 4: A 3-year follow-up case report.

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Cropped to the original Control/Proband finger-length comparison; decoded to PNG; no other changes.

Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová (2023). Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes. Figure 1G.

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Azmi, Silim, Sawri Rajan, Nasaruddin (2025). Recurrent Optic Neuritis as a Misleading Presentation of Leber Hereditary Optic Neuropathy: The Need for High Clinical Suspicion in Young Men. Figure 1.

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Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová (2023). Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes. Figure 1A.

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Francisco J. Muñoz-Negrete, Javier Moreno-Montañés, Paula Hernández-Martínez, Gema Rebolleda (2015). Current Approach in the Diagnosis and Management of Uveitic Glaucoma. Figure 3.

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Yu Yoneda, Yoshihiko Usui, Rie Tanaka, Keitaro Hase, Kenichi Namba, Koju Kamoi, Hiroshi Takase, Masaki Takeuchi, Wataru Matsumiya, Sentaro Kusuhara, Atsunobu Takeda, Nobuyo Yawata, Ryoji Yanai, Tomona Hiyama, Yosuke Harada, Noriyasu Hashida, Kazuichi Maruyama, Kei Nakai, Ryo Taguchi, Toshikatsu Kaburaki, Nobuhisa Mizuki, Hiroshi Goto, Yujiro Fujino, Masaru Takeuchi (2022). Factors associated with low prevalence of Fuchs' uveitis syndrome in Japan. Figure 1A.

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A. Wilf-Yarkoni, O. Elkayam, O. Aizenstein, Y. Oron, V. Furer, D. Zur, M. Goldstein, D. Barequet, H. Hallevi, A. Karni, Z. Habot-Wilner, K. Regev (2020). Increased incidence of Susac syndrome: a case series study. Figure 1B.

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Juliette Buffault, Pierre Zéboulon, Hong Liang, Anthony Chiche, Jade Luzu, Mathieu Robin, Ghislaine Rabut, Marc Labetoulle, Antoine Labbé, Christophe Baudouin (2020). Assessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy.

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Juliette Buffault, Pierre Zéboulon, Hong Liang, Anthony Chiche, Jade Luzu, Mathieu Robin, Ghislaine Rabut, Marc Labetoulle, Antoine Labbé, Christophe Baudouin (2020). Assessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy.

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Víctor Charoenrook, Raquel Larena, Álvaro Ferragut-Alegre, Alix De Faria, Rebeca Valero, Mònica Martí-Orpinell, Gemma Julio, Rafael I. Barraquer (2026). Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

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Arturo E. Grau, Sergio González, Pablo Zoroquiain, Pablo A. González, Daniela Khaliliyeh, Eugenia Morselli, Dennis Cortés (2020). Evidence of autophagic vesicles in a patient with Lisch corneal dystrophy.

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Giuseppe Acri, Antonio Micali, Rosalia D’Angelo, Domenico Puzzolo, Pasquale Aragona, Barbara Testagrossa, Emanuela Aragona, Edward Wylegala, Anna Nowinska (2022). Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.

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Giuseppe Acri, Antonio Micali, Rosalia D’Angelo, Domenico Puzzolo, Pasquale Aragona, Barbara Testagrossa, Emanuela Aragona, Edward Wylegala, Anna Nowinska (2022). Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.

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Wen-Ya Qiu, Li-Bin Zheng, Fei Pan, Bei-Bei Wang, Yu-Feng Yao (2016). New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.

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Wen-Ya Qiu, Li-Bin Zheng, Fei Pan, Bei-Bei Wang, Yu-Feng Yao (2016). New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.

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Wen-Ya Qiu, Li-Bin Zheng, Fei Pan, Bei-Bei Wang, Yu-Feng Yao (2016). New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.

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Sara Bøgelund Rasmussen and Anders Peter Søndergaard (2024). Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report.

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Sara Bøgelund Rasmussen and Anders Peter Søndergaard (2024). Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report.

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Sara Bøgelund Rasmussen and Anders Peter Søndergaard (2024). Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report.

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Fengjiao Zhu, Ming Li, Chun Zhang, Chan Chen, Fangwei Ying, Danyao Nie (2021). In vivo confocal microscopy qualitative investigation of the relationships between lattice corneal dystrophy deposition and corneal nerves.

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Matsumoto, Fukuoka, Sotozono (2025). Descemet's Membrane Detachment During Cataract Surgery in Lattice Corneal Dystrophy Type I: Histopathological Analysis of Posterior Corneal Involvement. Figure 4C.

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Eduardo Gayger Müller, José Álvaro Pereira Gomes, Walton Nosé, Ricardo Menon Nosé (2018). Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty.

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Eduardo Gayger Müller, José Álvaro Pereira Gomes, Walton Nosé, Ricardo Menon Nosé (2018). Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty.

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Flavio Mantelli, Alessandro Lambiase, Antonio Di Zazzo, Stefano Bonini (2012). Sands of Sahara after LASIK in Avellino Corneal Dystrophy.

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Süleyman Okudan, Emine Tınkır Kayıtmazbatır, Ayşe Bozkurt Oflaz, Banu Bozkurt (2025). In Vivo Confocal Microscopy Findings in Corneal Stromal Dystrophies. Figure 1b.

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Nina Stoyanova, Abdulrahman Imran, Zain Ul Hassan, Krasimir Kraev, Yordanka Basheva-Kraeva, Maria Kraeva, Petar Uchikov, Plamena Novakova, Veselin Vasilev, Ivaylo Minev, Bozhidar Hristov, Desislava Koleva-Georgieva, Petko Petrov, Luboslav Dimov, Svetlan Dermendzhiev, Marin Atanassov (2025). Case Report of Schnyder Corneal Dystrophy—A Rare Lipid Metabolic Disorder of the Cornea. Figure 1.

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Christina S. Kamma-Lorger, Christian Pinali, Juan Carlos Martínez, Jon Harris, Robert D. Young, Cecilie Bredrup, Eva Crosas, Marc Malfois, Eyvind Rødahl, Keith M. Meek, Carlo Knupp (2016). Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). Figure 3A.

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Michelle J. Kim, Ricardo F. Frausto, George O. D. Rosenwasser, Tina Bui, Derek J. Le, Edwin M. Stone, Anthony J. Aldave (2014). Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12.

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Michelle J. Kim, Ricardo F. Frausto, George O. D. Rosenwasser, Tina Bui, Derek J. Le, Edwin M. Stone, Anthony J. Aldave (2014). Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12.

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Salman, Mohd, Verma, Anshuman, Chaurasia, Sunita, Prasad, Deeksha, Kannabiran, Chitra, Singh, Vivek, Ramappa, Muralidhar (2022). Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.

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Fernández-Gutiérrez et al., Int. J. Mol. Sci. 2023, 24, 209, Fig. 1d. © 2022 by the authors.

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(https://creativecommons.org/licenses/by/4.0/). Panel d cropped; original pixels retained. https://doi.org/10.3390/ijms24010209

Eveline Kersten, Maartje J. Geerlings, Marc Pauper, Jordi Corominas, Bjorn Bakker, Lebriz Altay, Sascha Fauser, Eiko K. de Jong, Carel B. Hoyng, Anneke I. den Hollander (2018). Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration. Figure 1E.

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Mauschitz Matthias M, Zeller Markus, Sagar Pradeep, Biswal Suchitra, Guzman Gabriela, Terheyden Jan H, Meyer Carsten H, Holz Frank G, Heinz Carsten, Pleyer Uwe, Finger Robert P, Wintergerst Maximilian W M, Ferreras Antonio. Fundus Autofluorescence in Posterior and Panuveitis—An Under-Estimated Imaging Technique: A Review and Case Series. Figure 2, scars crop.

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Evianne L. de Groot, Jeannette Ossewaarde–van Norel, Joke H. de Boer, Sanne Hiddingh, Bjorn Bakker, Ramon A. C. van Huet, Ninette H. ten Dam–van Loon, Alberta A. H. J. Thiadens, Magda A. Meester-Smoor, Yvonne de Jong–Hesse, Leonoor I. Los, Anneke I. den Hollander, Camiel J. F. Boon, Lambertus A. Kiemeney, Kristel R. van Eijk, Mark K. Bakker, Carel B. Hoyng, Jonas J. W. Kuiper (2023). Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis. Figure 1B.

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Aniruddha Agarwal, Sabia Handa, Alessandro Marchese, Salvatore Parrulli, Alessandro Invernizzi, Roel J. Erckens, Tos T. J. M. Berendschot, C. A. B. Webers, Reema Bansal, Vishali Gupta. Optical Coherence Tomography Findings of Underlying Choroidal Neovascularization in Punctate Inner Choroidopathy. Figure 2, cnv crop.

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Ting Michael, Hsueh Jessica, Noori Jila. Multiple evanescent white dot syndrome associated with COVID-19 infection: a case report. Figure 1, wreath crop.

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Ting Michael, Hsueh Jessica, Noori Jila. Multiple evanescent white dot syndrome associated with COVID-19 infection: a case report. Figure 1, outer-segments crop.

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Tatyana R Beketova, Kiersten Snyder, Alicia Jiang, Robert G. Josephberg (2023). Acute Posterior Multifocal Placoid Pigment Epitheliopathy With Associated Papillitis. Figure 1A.

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Xerri Olivia, Salah Sawsen, Monnet Dominique, Brézin Antoine P. Untreated Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE): a case series. Figure 1, angiography crop.

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Herbort Carl P Jr, Arapi Ilir, Papasavvas Ioannis, Mantovani Alessandro, Jeannin Bruno, Lanza Michele. Acute Zonal Occult Outer Retinopathy (AZOOR) Results from a Clinicopathological Mechanism Different from Choriocapillaritis Diseases: A Multimodal Imaging Analysis. Figure 3, field crop.

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Herbort Carl P Jr, Arapi Ilir, Papasavvas Ioannis, Mantovani Alessandro, Jeannin Bruno, Lanza Michele. Acute Zonal Occult Outer Retinopathy (AZOOR) Results from a Clinicopathological Mechanism Different from Choriocapillaritis Diseases: A Multimodal Imaging Analysis. Figure 1, fundus crop.

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Mauschitz Matthias M, Zeller Markus, Sagar Pradeep, Biswal Suchitra, Guzman Gabriela, Terheyden Jan H, Meyer Carsten H, Holz Frank G, Heinz Carsten, Pleyer Uwe, Finger Robert P, Wintergerst Maximilian W M, Ferreras Antonio. Fundus Autofluorescence in Posterior and Panuveitis—An Under-Estimated Imaging Technique: A Review and Case Series. Figure 4, serpiginous crop.

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Bousquet Elodie, Duraffour Pierre, Debillon Louis, Somisetty Swathi, Monnet Dominique, Brézin Antoine P, Sève Pascal, Mizota Atsushi. Birdshot Chorioretinopathy: A Review. Figure 1, nasal crop.

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Bousquet Elodie, Duraffour Pierre, Debillon Louis, Somisetty Swathi, Monnet Dominique, Brézin Antoine P, Sève Pascal, Mizota Atsushi. Birdshot Chorioretinopathy: A Review. Figure 3, edema crop.

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Bousquet Elodie, Duraffour Pierre, Debillon Louis, Somisetty Swathi, Monnet Dominique, Brézin Antoine P, Sève Pascal, Mizota Atsushi. Birdshot Chorioretinopathy: A Review. Figure 5, erg crop.

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Xu Cao, Longhao Kuang, Jiexuan Lv, Shaoyi Mei, Jingjing Su, Yufang Wang, Qing Zhan and Ping Guo (2026). Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.

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Lucia Ambrosio, Tatiana Perepelkina, Abdelrahman M. Elhusseiny, Anne B. Fulton, Jose Efren Gonzalez Monroy (2025). Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.

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Matthew D. Benson, Ian M. MacDonald, Melissa Sheehan, Shailly Jain (2020). Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.

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Ahad Azami, Nasrollah Maleki, Mohammadreza Kalantar Hormozi, Zahra Tavosi (2014). Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome.

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Klaudia Szala and Bogumiła Wójcik-Niklewska (2025). A Rare Vitreoretinal Degenerative Disorder: Goldmann–Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient.

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Klaudia Szala and Bogumiła Wójcik-Niklewska (2025). A Rare Vitreoretinal Degenerative Disorder: Goldmann–Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient.

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Taimoor A. Khan, Muhammad A. Zahid, Amjad Akram, Abdul Rauf (2022). Progressive Vision Loss in a Patient With Axenfeld-Rieger Syndrome.

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Sheetal Badnaware, Vinay Kumar Srivastava, Meenakshi Chandel, Pooja Gupta, Punit Fulzele (2022). Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report.

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Vishal V. Bhende, Hardil P. Majmudar, Tanishq S. Sharma, Sohilkhan R. Pathan, Deepakkumar V. Mehta (2021). Nonhepatic Alagille Syndrome Associated With Predominant Cardioskeletal Anomalies: A Rare Case.

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Sirek Sebastian, Filipek Erita, Wójcik–Niklewska Bogumiła, Pojda-Wilczek Dorota, Mrukwa-Kominek Ewa. Ocular features in Aicardi syndrome: A case report. Figure 1, lacunae crop.

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Muacevic Alexander, Adler John R, Bannour Imen, Guerbej Ekram, Abbassi Hafedh, Boughizane Sassi. Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review. Figure 5, callosal-agenesis crop.

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Neruban Kumaran, Anthony T. Moore, Richard G. Weleber, Michel Michaelides (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

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Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano (2024). A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.

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Ankur K Shrivastava, Yamini Patial, Barkha Singh, Narendra Kuber Bodhey (2024). Myopic Posterior Persistent Fetal Vasculature: A Rare Presentation.

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Mohammad-Reza Sedaghat, Hamed Momeni-Moghaddam, Batool Haghighi, Majid Moshirfar (2019). Phacoemulsification in bilateral anterior lenticonus in Alport syndrome: A case report.

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Mohammad-Reza Sedaghat, Hamed Momeni-Moghaddam, Batool Haghighi, Majid Moshirfar (2019). Phacoemulsification in bilateral anterior lenticonus in Alport syndrome: A case report.

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Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige (2023). Ocular manifestations of renal ciliopathies.

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Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida (2017). Novel PAX6 mutation reported in an aniridia patient.

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Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida (2017). Novel PAX6 mutation reported in an aniridia patient.

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