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We report on the case of a 19-year-old male with Stargardt disease (STGD1) who presented with a five-year history of progressive vision loss, accompanied by the recent onset of alternating exotropia. This patient initially sought care due to difficulties with near vision and tended to focus on distant objects when looking to the right. He was found to have a best-corrected visual acuity of 20/200 in both eyes. A comprehensive evaluation, including multimodal imaging and multifocal electroretinogram, was performed. Genetic testing confirmed the diagnosis of STGD1, identifying homozygous mutations in the ABCA4 gene. Interestingly, an additional heterozygous mutation in the WDPCP gene, typically associated with Bardet-Biedl syndrome, was also discovered. The patient's exotropia, an atypical feature in STGD1, underscores the importance of comprehensive clinical and genetic evaluation and the need for further research into the clinical significance of these findings., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, López-Fontanet et al.)

Purpose: Previous studies have reported on the cardiovascular, ocular, and musculoskeletal findings in patients with Marfan syndrome (MFS). This study aims to report the ocular and genotypic findings in patients with the syndrome in Puerto Rico., Patients and Methods: A chart review of a cohort of patients with the syndrome from Puerto Rico was done. Patients were examined by at least one of the authors (NJI). Fibrillin-1 ( FBN1 ) full gene sequencing was done to all patients (Laboratory for Molecular Medicine, Center for Genetics and Genomics, Cambridge, MA). This study was approved by the Institutional Review Board of the Universidad Central del Caribe (approval number: 2024-07).  Results: Six patients aged 28-79 years were examined. There were seven female and three male patients. The average visual acuity was 0.49 and 0.52 in the right eye (OD) and left eye (OS), respectively. The average refraction (spherical equivalent) was -1.28 sph OD and -1.07 sph OS. The average intraocular pressure was 14 mmHg in both eyes (OU). A patient had a dislocated lens OD; a patient had lens dislocation OU; and a patient had prosthesis OD and aphakia OS. Upon optical coherence tomography (OCT), the retinal nerve fiber layer (RNFL) average was 75.86 µm OD and 81.85 ​​µm OS; the average cup-to-disc (C/D) ratio was 0.41 and 0.35 in the right and left eye, respectively. Upon visual field testing, the average mean deviation (MD) was -6.27 dB OD and -8.55 dB OS., Conclusions: Our findings underscore the significant phenotypic and genotypic heterogeneity of patients with MFS in Puerto Rico. The identification of several mutations in the FBN1 gene in the Puerto Rican population demonstrates the need for an up-to-date approach to diagnose and co-manage patients with the syndrome. This study contributes to a deeper understanding of the genetic heritage of patients with the syndrome and highlights the potential for personalized therapeutic interventions., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Review Board of Universidad Central del Caribe issued approval 2024-07. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Jiménez-Berríos et al.)

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and ceroid deposition leading to complications such as pulmonary fibrosis and colitis. This case report describes a 63-year-old female with HPS type 1 (HPS1) who developed acute angle closure glaucoma following cataract surgery with anterior intraocular lens implantation. The patient presented with severe acute pain in the right eye, which was diagnosed as a pupillary block leading to acute angle closure glaucoma. Preoperative planning included the administration of aminocaproic acid to mitigate bleeding risk, given the patient's underlying bleeding diathesis. Yttrium aluminium garnet (YAG) laser iridotomy was performed, resulting in a significant reduction of intraocular pressure and stabilization of the patient's condition., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. IRB - Universidad Central del Caribe issued approval 2024-30. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Vázquez-Folch et al.)

This case report details the clinical manifestations observed in a 22-year-old male diagnosed with ocular albinism (OA). The patient underwent a comprehensive eye examination by one of the authors, revealing clinical features such as skin depigmentation, telecanthus, iris transillumination, nystagmus, and foveal hypoplasia. This report underscores the importance of a thorough clinical examination and genetic testing for accurate diagnosis, effective management, and appropriate counseling of patients with OA., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, López-Fontanet et al.)

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Menendez Sepulveda et al.)

Mutations in the  KIF7 gene have been implicated in autosomal recessive conditions such as Joubert syndrome, acrocallosal syndrome, and fetal hydrolethalus, as well as in retinal degeneration and other ocular manifestations due to their effect on primary cilia. In this study, we report that the full-field electroretinogram (ERG) test showed non-recordable scotopic ERG responses, while photopic ERG responses were diminished bilaterally. This is a case report of a 62-year-old female patient with painless, progressive vision loss in both eyes. Fundus examination revealed a pale optic nerve head, vessel attenuation, and macular thinning without peripheral pigmentary changes. The full-field electroretinogram (ERG) test showed non-recordable scotopic ERG responses, while photopic ERG responses were diminished bilaterally. Based on these ocular findings, the patient was clinically diagnosed with retinitis pigmentosa (RP) sine pigmento. Genetic testing identified a pathogenic heterozygous mutation in the KIF7  gene with the variant c.61C>T (p.Arg21*). Our case suggests that this pathologic variant may be associated with RP sine pigmento. Further studies are warranted to better understand the role of the  KIF7  gene in retinal dystrophies., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ruiz-Matos et al.)

Introduction: It is possible that social media use can boost not just articles' social impact but the number of citations and academic influence as well. If a positive correlation between Twitter usage and citation metrics exists in the ophthalmology literature, it is important to broadcast this information to the ophthalmology community so they can use Twitter to increase academic engagement with their research. There has also been an increase in the number of articles available as open access. Therefore, it is important to evaluate the presence of an open-access citation advantage in the field of ophthalmology. This study aims to evaluate the relationship between Twitter mention and open access status on citation metrics in the ophthalmology literature., Methods: We conducted a retrospective cross-sectional study comparing article citation metrics to Twitter mentions and open access status. We gathered data on ophthalmology research articles from the six highest-ranked ophthalmology journals published as part of a January 2019 issue. Data were collected in April 2022, 38 months after online publication. Data on citations for each article was based on Google Scholar and Scopus websites. The Altmetric Bookmarklet extension was used to determine the amount of social engagement each article received. The open-access status of each article was based on the status listed in its corresponding journal. Two-tailed t-tests were used to compare social media engagement and open access status with the number of Google Scholar and Scopus citations., Results: A total of 102 original research articles were analyzed. 89 (87.3%) articles received a Twitter mention. Articles tweeted at least once had a significantly higher Google Scholar score (27.2 +/- 4) compared to articles not tweeted (16.4 +/- 1.7; 1.7-fold increase, p<0.05). Likewise, the average Scopus score was significantly higher for tweeted articles (18.6 +/- 2.6) compared to articles not tweeted (11.8 +/- 1.6; 1.6-fold increase, p<0.05). Articles listed as open access had a significantly higher number of Twitter mentions (11.8 +/- 1.8) compared to articles that were not open access (5.6 +/- 0.7; 2.1-fold increase, p<0.05). Open-access articles also had higher citation scores compared to articles that are not open access, but this relationship was not statistically significant., Conclusion: This is the first study to evaluate the relationship between article Twitter mention and citation score in the field of ophthalmology. It demonstrates a significant positive correlation between the article Twitter mention and citation score and provides further evidence that social media engagement can be beneficial to the dissemination of academic information. Further studies on the relationship between social media engagement and article dissemination are warranted in the field of ophthalmology., Competing Interests: The authors have declared financial relationships, which are detailed in the next section., (Copyright © 2022, Santos et al.)

Introduction: Cataract is the leading cause of blindness worldwide. Phacoemulsification is now the gold standard for cataract extraction and is greatly needed in low socioeconomic status (SES) communities, rural and older patient populations, and patients with poor vision. This greatly increases the importance of high readability for online resources on this topic. This study aims to assess the readability of online information about phacoemulsification based on readability scores for each resource.  Methods: We conducted a retrospective cross-sectional study. The term "phacoemulsification" was searched online, and each website was categorized by type: academic, physician, non-physician, commercial, social media, and unspecified. The readability scores for each website were calculated using six different readability tests and a composite score that reflects reading grade level was obtained. To evaluate the difference between the categories of websites, analysis of variance (ANOVA) testing was used. All test scores were compared with the 6 th  grade standard recommendation using a one-sample t-test., Results: A total of 20 websites were analyzed. Three websites (3/20; 15%) had a score which is correlated with a 6 th grade reading level or below. Seventeen websites had a score correlated with a college reading level or above (17/20; 85%). None of the readability scores had a mean below a 6 th  grade reading level. No category had an average readability score at or below a 6 th grade reading level. None of the mean readability scores resulted in a statistically significant difference across categories. All readability tests had an average score which was significantly different from a 6 th  grade reading level (p<0.001).  Conclusions: This is the first study to focus on the accessibility of online English resources on phacoemulsification and implement multiple standardized readability scores with regards to cataract surgery resources. It provides further overwhelming evidence that online resources on phacoemulsification are too complex for the average patient to understand. Interventions should be implemented to improve readability., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Santos et al.)