Estudio IMPULSO: impacto de la COVID-19 en el presente de la oftalmología centrada en superficie ocular y tendencias de futuro / IMPULSE Study: Impact of COVID-19 in the present of ophthalmology focusing on ocular surface and future trends

Antecedentes y objetivo La evolución digital supone una oportunidad para que la oftalmología se adapte a nuevos modelos asistenciales. Este estudio tuvo como objetivo conocer cómo la pandemia ha modificado la práctica clínica y actividades formativas del oftalmólogo especializado en superficie ocular, y analizar tendencias y necesidades emergentes. Materiales y métodos Estudio realizado mediante encuesta online. Un comité de 3 especialistas diseñó un cuestionario de 25 preguntas estructurado en: 1) Perfil del participante; 2) Impacto de la pandemia en el manejo del paciente y las actividades profesionales; 3) Tendencias y necesidades. Resultados Participaron 68 oftalmólogos clínicos. Hubo un alto grado de acuerdo (90%) en que la pandemia demoró las visitas de seguimiento oftalmológico y el diagnóstico. Los participantes coincidieron en que aumentó la frecuencia de pacientes con enfermedad de ojo seco (75%), orzuelo/chalazión (62%) y blefaritis (60%). Según un 28%, será habitual el teleseguimiento mediante teleconsulta de dolencias como ojo seco, glaucoma, diabetes, conjuntivitis, hiposfagmas, orzuelos, etc., especialmente en población joven. Esto será especialmente relevante en las enfermedades crónicas o leves de la superficie ocular, y en el seguimiento de pacientes tras operación de cataratas y retinopatía diabética. Conclusiones Durante la pandemia se ha percibido un aumento de la incidencia de ciertas enfermedades de superficie ocular. El seguimiento de enfermedades crónicas o leves de la superficie ocular se vincula a la necesidad de proporcionar formación específica tanto para el paciente como para el profesional que lo atiende, además de protocolos de cribado y derivación que optimicen el flujo asistencial (AU)

Background and objective Digital evolution represents an opportunity for ophthalmology to adapt to new care models. This study aimed to find out how the pandemic has modified the clinical practice and training activities of the ophthalmologist specialized in ocular surface, as well as to analyze emerging trends and needs. Materials and methods This study was carried out through an online survey. A committee of 3 specialists developed a questionnaire of 25 questions structured in: 1) Participant profile; 2) Impact of the pandemic on patient management and professional activities; 3) Trends and needs. Results Sixty-eight clinical ophthalmologists participated. There was a high degree of agreement (90%) that the pandemic has delayed ophthalmological follow-up visits and diagnosis. The participants agreed that the frequency of patients with dry eye disease (75%), stye/chalazion (62%) and blepharitis (60%) has increased. According to 28%, remote monitoring of pathologies such as dry eye, glaucoma, diabetes, conjunctivitis, hyposphagmas, styes, etc., will be common, especially in the young population. This will be especially relevant in chronic or mild pathologies of the ocular surface, and in the follow-up of patients after cataract and diabetic retinopathy interventions. Conclusions During the pandemic, an increase in the incidence of certain ocular surface diseases has been perceived. The telematic follow-up of chronic or mild pathologies of the ocular surface entails the need to provide specific training for both the patient and the healthcare professional, in addition to screening and referral protocols that would optimize the flow of care (AU)

Ophthalmic Emergency Visits in the Wake of the COVID 19 Pandemic: Our Experience at a Tertiary Hospital in Israel.

BACKGROUND: In response to the coronavirus disease-2019 (COVID-19) pandemic, routine clinical visits to the ophthalmic emergency department (OED) were deferred, while emergency cases continued to be seen. OBJECTIVES: To assess the consequences of the COVID-19 pandemic for ophthalmic emergencies. METHODS: A retrospective chart analysis of patients who presented to the OED during the peak of the COVID-19 pandemic was conducted. The proportions of traumatic, non-traumatic-urgent, and non-traumatic-non-urgent presentations in 2020 were compared to those of the same time period in 2019. Duration of chief complains and best-corrected visual acuity were also assessed. RESULTS: There were 144 OED visits in 2020 compared to 327 OED visits during the same 3-week-period in 2019. Lower mean age of OED patients was present in 2020. Logarithmic expression (LogMAR) best corrected visual acuity (BVCA) was similar in both years. In 2020 there was a reduction in traumatic, non-traumatic-urgent, and non-traumatic-non-urgent cases compared to 2019 (15.4% reduction, P = 0.038; 57.6% reduction, P = 0.002; 74.6% reduction, P = 0.005, respectively). There was a higher proportion of same-day presentations at commencement of symptoms in 2020 compared with 2019 (52.8% vs. 38.8%, respectively P = 0.006). CONCLUSIONS: During the COVID-19 pandemic, the number of OED visits at a tertiary hospital dropped by more than half. Although the drop in visits was mostly due to decrease in non-traumatic-non-urgent cases, there was also decrease in non-traumatic-urgent presentations with possible important visual consequences. Additional studies should elucidate what happened to these patients.

Ocular Involvement in Hereditary Amyloidosis.

The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues.

New Highlights of Resveratrol: A Review of Properties against Ocular Diseases.

Eye diseases are currently a major public health concern due to the growing number of cases resulting from both an aging of populations and exogenous factors linked to our lifestyles. Thus, many treatments including surgical pharmacological approaches have emerged, and special attention has been paid to prevention, where diet plays a preponderant role. Recently, potential antioxidants such as resveratrol have received much attention as potential tools against various ocular diseases. In this review, we focus on the mechanisms of resveratrol against ocular diseases, in particular age-related macular degeneration, glaucoma, cataract, diabetic retinopathy, and vitreoretinopathy. We analyze, in relation to the different steps of each disease, the resveratrol properties at multiple levels, such as cellular and molecular signaling as well as physiological effects. We show and discuss the relationship to reactive oxygen species, the regulation of inflammatory process, and how resveratrol can prevent ocular diseases through a potential epigenetic action by the activation of sirtuin-1. Lastly, various new forms of resveratrol delivery are emerging at the same time as some clinical trials are raising more questions about the future of resveratrol as a potential tool for prevention or in therapeutic strategies against ocular diseases. More preclinical studies are required to provide further insights into RSV's potential adjuvant activity.

Relationship between refractive correction, visual symptoms, and optical device selection for low-vision patients in Taiwan / Relación entre corrección refractiva, síntomas visuales y selección de dispositivos ópticos para pacientes con baja visión en Taiwán

According to Taiwan optometry act, low-vision services, such as refractive correction and low vision assessment, are now included in Optometric profession. This study was designed to investigate the efficiency of refractive correction and the relationship between refractive correction, eye diseases, visual symptoms, and optical device selection for patients with low vision. METHODS: This study involved a total of 220 participants aged from 7 to 99, with 119 males and 101 females. All of them were referred from three institutes of Taiwan Resource Portal of Assistive Technology under the supervision of the Ministry of Health and Welfare during Feb 2016 to Jan 2018. Accordingly, 42, 76, and 102 of the participants were identified as having mild, moderate, and severe visual impairments, respectively, by five experienced and licensed optometrists for this comprehensive low vision examination. RESULTS: The most common eye diseases in this study were retinal disease, cataract, glaucoma, and optic nerve hypoplasia; some of the participants had multiple eye diseases while participating in the study. Except visual acuity decrease, eye diseases were highly correlated with participants' visual symptoms. Refractive correction is the first step in low-vision examination, therefore, it might be much helpful to some types of eye diseases, visual symptoms, and to the decisions of optical devices for low-vision patients. The results herein suggest that color vision and contrast sensitivity should be taken into consideration when calculating the second optical magnifying power after refractive correction. CONCLUSIONS: Refractive correction is necessary for the treatment of patients' visual symptoms and also for the prescription of low-vision aids

Con arreglo a la ley de Optometría de Taiwán, los servicios de baja visión, tales como la corrección refractiva y la evaluación de la baja visión, se incluyen ahora en la profesión optométrica. Este estudio fue diseñado para investigar la eficiencia de la corrección refractiva y la relación entre corrección refractiva, enfermedades oculares, síntomas visuales, y selección del dispositivo óptico para pacientes con baja visión. MÉTODOS: Este estudio incluyó a un total de 220 participantes, 119 varones y 101 mujeres, con edades comprendidas entre 7 y 99 años. Todos ellos procedían de tres institutos del Portal de Recursos de Tecnología Asistencial de Taiwán, bajo la supervisión del Ministerio de Sanidad y Bienestar, desde febrero de 2016 a enero de 2018. En total, se identificaron 42, 76, y 102 participantes con trastornos visuales leves, moderados y graves, respectivamente, por parte de cinco optometristas experimentados y licenciados, para este amplio examen de baja visión. RESULTADOS: Las enfermedades oculares más comunes en este estudio fueron: enfermedad retiniana, cataratas, glaucoma, e hipoplasia del nervio óptico. Algunos de los participantes tenían enfermedades oculares múltiples cuando participaron en el estudio. Exceptuando la disminución de la agudeza visual, las enfermedades oculares guardaron una alta correlación con los síntomas visuales de los participantes. La corrección refractiva es el primer paso del examen de la baja visión y, por tanto, podría resultar muy útil para ciertos tipos de enfermedades oculares, síntomas visuales, y para la toma de decisiones sobre los dispositivos ópticos para los pacientes con baja visión. Los resultados del presente estudio sugieren que la visión del color y la sensibilidad al contraste deberían tenerse en consideración a la hora de calcular la segunda potencia de magnificación óptica tras la corrección refractiva. CONCLUSIONES: La corrección refractiva es necesaria para el tratamiento de los síntomas visuales de los pacientes, y también para la prescripción de dispositivos ópticos para los pacientes con baja visión

Validity of International Classification of Diseases Codes for Identifying Neuro-Ophthalmic Disease in Large Data Sets: A Systematic Review.

BACKGROUND: Administrative health claims data have been used for research in neuro-ophthalmology, but the validity of International Classification of Diseases (ICD) codes for identifying neuro-ophthalmic conditions is unclear. EVIDENCE ACQUISITION: We performed a systematic literature review to assess the validity of administrative claims data for identifying patients with neuro-ophthalmic disorders. Two reviewers independently reviewed all eligible full-length articles and used a standardized abstraction form to identify ICD code-based definitions for 9 neuro-ophthalmic conditions and their sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). A quality assessment of eligible studies was also performed. RESULTS: Eleven articles that met criteria for inclusion are as follows: 3 studies of idiopathic intracranial hypertension (PPV 54%-91% and NPV 74%-85%), 2 studies of giant cell arteritis (sensitivity 30%-96% and PPV 94%), 3 studies of optic neuritis (sensitivity 76%-99%, specificity 83%-100%, PPV 25%-100%, and NPV 98%-100%), 1 study of neuromyelitis optica (sensitivity 60%, specificity 100%, PPV 43%-100%, and NPV 98%-100%), 1 study of ocular motor cranial neuropathies (PPV 98%-99%), and 2 studies of myasthenia gravis (sensitivity 53%-97%, specificity 99%-100%, PPV 5%-90%, and NPV 100%). No studies met eligibility criteria for nonarteritic ischemic optic neuropathy, thyroid eye disease, and blepharospasm. Approximately 45.5% provided only one measure of diagnostic accuracy. Complete information about the validation cohorts, inclusion/exclusion criteria, data collection methods, and expertise of those reviewing charts for diagnostic accuracy was missing in 90.9%, 72.7%, 81.8%, and 36.4% of studies, respectively. CONCLUSIONS: Few studies have reported the validity of ICD codes for neuro-ophthalmic conditions. The range of diagnostic accuracy for some disorders and study quality varied widely. This should be taken into consideration when interpreting studies of neuro-ophthalmic conditions using administrative claims data.

Cirugía de los anejos oculares en la obra de Galeno / Ocular adnexa surgery in Galen's Works

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Complicaciones asociadas al uso de lentes de contacto blandas / Complications associated with the use of soft contact lenses

Las lentes de contacto blandas son una buena alternativa al uso de gafas para la corrección de defectos refractivos. Sin embargo, un mal uso puede asociarse a complicaciones. La manipulación incorrecta, la mala higiene o el sobreuso de dichas lentes pueden producir mala tolerancia, inflamación ocular e incluso secuelas visuales. En esta revisión se describen las complicaciones más frecuentes, y también las más graves, de tipo infeccioso y no infeccioso asociadas al uso de lentes de contacto blandas, así como las recomendaciones para su correcto uso

Soft contact lenses are a good alternative to the use of glasses for the correction of refractive defects. However, improper use can be associated with complications. Incorrect handling, poor hygiene, or over-use of the lenses can lead to poor tolerance, eye inflammation, and even visions sequelae. In this review, the most common and also the most serious are described, including the infectious and non-infectious complications associated with the use of soft contact lenses, including recommendations for their correct use

Triaging ophthalmology outpatient referrals with machine learning: A pilot study.

IMPORTANCE: Triaging of outpatient referrals to ophthalmology services is required for the maintenance of patient care and appropriate resource allocation. Machine learning (ML), in particular natural language processing, may be able to assist with the triaging process. BACKGROUND: To determine whether ML can accurately predict triage category based on ophthalmology outpatient referrals. DESIGN: Retrospective cohort study. PARTICIPANTS: The data of 208 participants was included in the project. METHODS: The synopses of consecutive ophthalmology outpatient referrals at a tertiary hospital were extracted along with their triage categorizations. Following pre-processing, ML models were applied to determine how accurately they could predict the likely triage categorization allocated. Data was split into training and testing sets (75%/25% split). ML models were tested on an unseen test set, after development on the training dataset. MAIN OUTCOME MEASURE: Area under the receiver operator curve (AUC) for category one vs non-category one classification. RESULTS: For the main outcome measure, convolutional neural network (CNN) provided the best AUC (0.83) and accuracy on the test set (0.81), with the artificial neural network (AUC 0.81 and accuracy 0.77) being the next best performing model. When the CNN was applied to the classification task of identifying which referrals should be allocated a category one vs category two vs category three priority, a lower accuracy was achieved (0.65). CONCLUSIONS AND RELEVANCE: ML may be able to accurately assist with the triaging of ophthalmology referrals. Future studies with data from multiple centres and larger sample sizes may be beneficial.

Long non-coding RNAs in ocular diseases: new and potential therapeutic targets.

Long non-coding RNAs (lncRNAs) are non-protein coding transcripts containing more than 200 nucleotides. In the past, lncRNAs were considered as 'transcript noise' or 'pseudogenes' and were thus ignored. However, in recent years, lncRNAs have been proven to regulate gene expression at the epigenetic, transcriptional and translational level, and thereby influence cell proliferation, apoptosis, viability, immune response and oxidative stress. Furthermore, increasing evidence points to their involvement in different diseases, including cancer and heart diseases. Recently, lncRNAs were shown to be differentially expressed in ocular tissues and play a significant role in the pathogenesis of ophthalmological disorders such as glaucoma, corneal diseases, cataract, diabetic retinopathy, proliferative vitreoretinopathy and ocular tumors. In this review, we summarize the classification and mechanisms of known lncRNAs, while detailing their biological functions and roles in ocular diseases. Moreover, we provide a concise review of the clinical relevance of lncRNAs as novel, potential therapeutic targets in the treatment of eye diseases.

Repensando el sobrediagnóstico y el sobretratamiento en oftalmología. Introducción al concepto de futilidad / Re-thinking overdiagnosis and over-treatment in ophthalmology. Introduction to the concept of futility

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Inhibidores de la proproteína convertasa plasmática subtilisina kexina tipo 9 y riesgo de cataratas: revisión sistemática y metaanálisis / Plasma proprotein convertase subtilisin/kexin type 9 inhibitors and cataract risk: A systematic review and meta-analysis

Antecedentes: El marcado descenso en los niveles de C-LDL producidos por los inhibidores de la proproteína convertasa plasmática subtilisina kexina tipo 9 (iPCSK9) podría asociarse con un mayor riesgo de cataratas. Métodos: Realizamos un metaanálisis que incluyó ensayos clínicos aleatorizados y controlados con iPCSK9, solos o combinados con otros fármacos hipolipidemiantes, que reportaron nuevos casos de cataratas, buscando en PubMed/Medline, bases de datos de EMBASE y Cochrane Clinical Trials. Se utilizó un modelo de efectos fijos y se realizó una metarregresión evaluando la relación entre el C-LDL intratratamiento y el riesgo de desarrollar cataratas. Resultados: Se tomaron en cuenta 5 estudios elegibles con iPCSK9 que incluyeron 83.492 pacientes para el análisis, refiriendo 531 nuevos casos de cataratas en el grupo con iPCSK9 frente a 532 en el grupo placebo. La terapia con iPCSK9 no se asoció con un mayor riesgo de presentar cataratas (OR: 0,96; IC 95%: 0,85-1,08; p = 0,86, I2: 0%]. Asimismo, no se encontró una asociación significativa entre la diferencia de C-LDL intratratamiento entre las ramas de los estudios y el riesgo de cataratas. Conclusión. En nuestro análisis, la utilización de iPCSK9 no se asoció con un mayor riesgo de cataratas

Background: The marked decrease in LDL-C levels produced by the inhibitors of the plasma proprotein convertase subtilisin/kexin type 9 (iPCSK9) could be associated with an increased risk of cataracts. Methods: A meta-analysis was performed that included randomised clinical trials controlled with iPCSK9, alone, or in combination with other lipid-lowering drugs, which reported new cases of cataracts, by searching PubMed/Medline, databases of EMBASE and Cochrane Clinical Trials. A fixed-effect model was used, and a meta-regression was carried out evaluating the relationship between intra-treatment LDL-C and the risk of developing cataracts. Results: Five eligible studies of iPCSK9 including 83,492 patients were taken into account for the analysis, and 531 new cases of cataracts in iPCSK9 group vs. 532 in placebo group were diagnosed. The iPCSK9 therapy was not associated with an increased risk of cataracts [OR: 0.96, 95% CI: 0.85-1.08; P = .86, I2: 0%]. Likewise, no significant association was found between on-treatment LDL-C levels, differences between study arms, and new cases of cataracts. Conclusion: In this analysis, the use of iPCSK9 was not associated with an increased risk of cataracts

Melanoma amelanótico del iris en un niño hispano de 7 años con perforación del globo subclínica / Amelanotic iris melanoma in a 7 year-old hispanic boy with subclinical globe perforation

Describimos el caso de un melanoma amelanótico del iris en un niño hispano de 7 años con perforación del globo subclínica. El melanoma uveal raramente ocurre en niños. La mayoría de los pacientes jóvenes afectados se presentan en la etapa de la pubertad, son caucásicos y con ojos claros. Debido a su rareza, estos tumores pueden no ser reconocidos o ser diagnosticados erróneamente. Destacamos el diagnóstico diferencial y las opciones terapéuticas

We report an unusual case of an amelanotic melanoma in a 7 year old hispanic child with subclinical globe perforation. Uveal melanoma rarely occurs in children. Young affected patients are mostly light-colored eye Caucasian adolescents. Since they are not common, these tumors are usually not recognized and misdiagnosed. Differential diagnoses and therapeutic options are outlined

Nevus compuesto inflamatorio juvenil: no es melanoma todo lo que parece / Inflammatory juvenile compound nevi: A melanoma is not all that it appears to be

Niña de 11 años que acude por crecimiento rápido de lesión pigmentada en conjuntiva bulbar del ojo izquierdo. Debido a las características biomicroscópicas y ultrasónicas de la lesión se realizó una biopsia escisional con técnica "no touch" y criocoagulación en márgenes quirúrgicos. La anatomía patológica demostró la presencia de un nevus compuesto inflamatorio de conjuntiva. Los tumores melánicos de la conjuntiva son en su gran mayoría benignos. Sin embargo, el crecimiento acelerado de una lesión, la vascularización de la misma, los márgenes irregulares y la diferente coloración deben hacer pensar en una malignización. En tal caso, la biopsia escisional es obligatoria. A pesar de todas las características clínicas de malignidad, principalmente en jóvenes, puede tratarse de un nevus compuesto inflamatorio

An 11 year-old girl presented with a recent growth pigmented conjuntival lesion in the bulbar conjunctiva of left eye. Due to the the biomicroscopic and ultrasound findings, an excisional biopsy was performed on the lesion using the "no touch" technique, as well as cryo-coagulation of surgical margins. Histopathological examination revealed an inflammatory compound nevus. Melanotic conjunctival tumours are mostly benign. However, the recent growth of a lesion, its vascularisation, irregularities of the margins, and colour change must suggest it has turned malignant. In such case, excision of the lesion is mandatory. Despite all the clinical changes, especially in young patients, it can still be an inflammatory compound nevus

Influencia de la monoftalmía de Edgar Degas en su obra pictórica / Influence of the monophthalmia of Edgar Degas in his pictorial work

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La práctica oftalmológica en México del siglo xviii / The practice of ophthalmology in Mexico in the 18th century

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An ontological foundation for ocular phenotypes and rare eye diseases.

BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barrier. Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical structures. They can be used to provide robust terminology standards and to enhance data interoperability. Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/nosology). METHODS: A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group. RESULTS: A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated. CONCLUSIONS: To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.

Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme's metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher's can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 - present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.