Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

PURPOSE. This review aimed to identify all gene therapies currently in use or under clinical investigation for the treatment of any ocular disorder, and to provide a comprehensive overview of their safety and effectiveness. METHODS. The literature search was conducted in four databases (PubMed, Embase, Cochrane Central, and Web of Science Core Collection) and one clinical trial registry (ClinicalTrials.gov) and encompasses literature up to July 15, 2022. All systematic reviews, published clinical trial articles, and ongoing trials on gene therapy for ophthalmic disorders in humans were eligible for inclusion. RESULTS & DISCUSSION. A total of 71 full-text articles have been selected, including 4 systematic reviews and 67 published clinical trial articles reporting results from 41 trials. Most evidence is available on gene therapy for monogenic eye diseases, but the use of gene therapies for non-monogenic eye diseases is also being increasingly explored. Generally, all studies show positive safety results, with intraocular inflammation as a common but mostly transient adverse event. The identified phase III RCTs show positive efficacy results for LCA and LHON. Individual trial characteristics, efficacy and safety results are displayed in summary tables. A substantial heterogeneity with respect to trial design, safety and efficacy assessment and reporting is observed across the trials. Finally, 55 ongoing trials without published results have been identified, and their study characteristics are also presented in tabulated form. CONCLUSION. A variety of different gene therapy types are being developed for an increasing range of ocular disorders, all revealing a favorable safety profile, and in some cases also promising efficacy results. Randomized controlled trials with larger sample sizes are needed in the future, and should focus on reporting results in a standardized manner to enable future meta-analyses and the drawing of clear-cut conclusions.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

ABSTRACT Background: Autoimmune retinopathies (AIR) are a group of disorders that are characterized by autoantibodies targeting crucial retinal proteins, leading to vision loss. Diagnosis relies on visual symptoms, identification of autoantibodies and electrophysiological changes. However, diagnosis remains challenging due to the rare nature of AIR and the lack of disease-specific features during testing. Objectives: Our objective was to identify the characteristics of full-field electroretinography (ffERG) in cancer-associated (CAR), melanoma-associated (MAR) and non-paraneoplastic autoimmune retinopathy (npAIR). Methods: A systematic search in PubMed yielded 94 case reports and case series describing ffERG findings in 322 patients with CAR, MAR or npAIR. We analyzed individual parameter distribution per ffERG protocol, wave amplitudes of different ffERG protocols and ffERG response symmetry between eyes, for the three AIR groups. Results: We provided evidence that CAR and npAIR subjects display a wide range of ffERG profiles, though simultaneous scotopic and photopic dysfunction were frequent, ranging from reduced to extinguished responses. On the contrary, the findings of MAR patients were much more homogenous. An electronegative rod-cone combined ERG pattern was dominant in MAR patients and indicate an impaired ON-bipolar cell function. Asymmetrical ERG findings were found in some patients with AIR, as expected. Symmetry was most notable in the MAR group. Conclusion: This systematic review indicates different ffERG profiles for the three subgroups of autoimmune retinopathy. CAR and npAIR share varying degrees of severity and features. These joint features could possibly be explained by the presence of overlapping candidate antiretinal antibodies that have been associated with both CAR and npAIR. Whereas with MAR, a specific electronegative combined response can be expected together with positive anti-ON bipolar antibodies. Antibody testing and electroretinography are complementary and should not be held back when a patient presents itself with sudden vision loss and unremarkable findings with other ophthalmological tests.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome is caused by bi-allelic pathogenic variants in the PEX1 or PEX6 gene. Only few patients with this syndrome have been reported. We hereby describe two siblings with genetically confirmed Heimler syndrome and provide imaging of the ocular phenotype. Materials and methods: The medical records of the siblings were reviewed retrospectively. Results: Both brother and sister were diagnosed with SNHL and amelogenesis imperfecta of the permanent teeth; one of the affected siblings also had nail abnormalities. Both patients presented to the ophthalmology department with suboptimal visual acuity, fundus abnormalities and intraretinal cystoid spaces. Full-field electroretinogram revealed a cone-rod dysfunction. A genetic analysis revealed a homozygous likely pathogenic variant c.3077 T > C (p.Leu1026Pro) in the PEX1 gene in both siblings. The parents are heterozygous carriers of the variant. Conclusion: We recommend performing regular ophthalmic examination in patients with Heimler syndrome since the ophthalmic manifestations can manifest later in life. Our patients presented with cone-rod dystrophy and intraretinal cystoid spaces. Review of the literature shows that the ocular phenotype can be very variable in patients with Heimler syndrome.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Amblyopie is een verminderde gezichtsscherpte als gevolg van onvoldoende visuele stimulatie tijdens de eerste levensjaren. De standaardbehandeling is occlusietherapie, waarbij het betere oog wordt afgeplakt om zo het amblyope oog te stimuleren en de visus te verbeteren. De nadelen inherent verbonden aan pleisters zoals hun kostprijs en discomfort, samen met nieuwe inzichten rond binoculaire dysfunctie door amblyopie, creëerden een kritische houding tegenover deze zuiver monoculaire benadering. De zoektocht naar nieuwe behandelingsstrategieën die afplakken kunnen vervangen of hierop aanvullend zijn, is bijgevolg actueel. Part-time occlusie-regimes blijken een waardig alternatief voor traditionele voltijdse occlusietherapie. Farmacologische behandeling met citicoline en levodopa of videospelletjes tijdens afplakken, kunnen het effect van occlusie versterken, maar worden nog niet standaard gebruikt gezien potentiële neveneffecten en/of onvoldoende bewezen effect . Het potentiële effect op therapietrouw van videospelletjes is echter zonder twijfel interessant. ICL implantatie en SMILE kunnen bij hoge refractieafwijkingen ingezet worden voor optimale optische correctie en verhogen van het visueel potentieel. Als nieuwe behandelstrategie bespreken we het gebruik van videospelletjes bij binoculaire dichoptische therapie. Superioriteit over occlusie werd echter nog niet aangetoond. Grootschalige RCT’s waarin onderscheid gemaakt wordt tussen de verschillende vormen van amblyopie, leeftijd en voorgaande behandelingen zijn nodig om de bestaande richtlijnen rond amblyopie behandeling verder te optimaliseren.