Unusual OCT findings in a patient with CABP4-associated cone –rod synaptic disorder
ConclusionsOCT findings of foveal elevation and an underlying hypo-reflective zone are novel in this condition. Whilst the clinical history was similar to achromatopsia and other cone dysfunction syndromes, ERG findings suggested disease associated withCACNA1F orCABP4. AsCACNA1F is X-linked,CABP4 was more likely, and confirmed on genetic testing. The patient saw better in dim light, confirming that night blindness is not a feature ofCABP4-associated disease. Our case highlights the value of ERGs in discriminating between causes of cone dysfunction, and extends the range of retinal imaging phenotypes reported in this disord...
Source: Documenta Ophthalmologica - January 11, 2024 Category: Opthalmology Source Type: research
Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
ConclusionA rare pathogenic variant of theRS1 gene was associated with diffuse retinal involvement (central and peripheral retina), probably in inner retina, and mild to moderate visual acuity impairment. The phenotypical characterization of rare mutations is relevant to provide information about the disease. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 3, 2024 Category: Opthalmology Source Type: research
An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up
ConclusionsWe demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - December 21, 2023 Category: Opthalmology Source Type: research
ISCEV standard pattern reversal VEP development: paediatric reference limits from 649 healthy subjects
ConclusionsPrVEP reference data could be combined despite some methodology differences within the tolerances of the ISCEV VEP Standard, supporting the clinical benefit of ISCEV Standards. Comparison with historical data is hampered by lack of minimum reporting guidelines. The reference data presented here could be validated or transformed for use elsewhere. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - November 8, 2023 Category: Opthalmology Source Type: research
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms
ConclusionsOver 20% of eyes showed b/a ratios less than 1, consistent with the notion that dark-adapted cone-driven responses to standard bright flashes can have negative waveforms. The majority had ratios greater than 1. Thus, whilst selective loss of rod function can yield a negative waveform (with reduced a-wave) in some, our findings also suggest that loss of rod function can occur without necessarily yielding a negative ERG. One potential limitation is possible mild cone system adaptation by the background. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - November 4, 2023 Category: Opthalmology Source Type: research
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population
ConclusionPhNRs to red flashes on a blue background may be more sensitive than white-on-white stimuli, but there is no significant difference between specificities. This study highlights the value and potential convenience of using white-on-white stimuli, already used widely for routine ERG assessment. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - October 27, 2023 Category: Opthalmology Source Type: research
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
ConclusionThis case presentation is consistent with LCA8, suggesting pathogenicity of this novel variant and expanding our knowledge of disease-causingCRB1 variants. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - October 7, 2023 Category: Opthalmology Source Type: research
Accelerated hydroxychloroquine toxic retinopathy
ConclusionsPatients on HCQ need to be kept on regular monitoring with more frequent follow-ups to detect signs of early onset toxicity and prevent permanent visual impairment. mfERG is an important diagnostic tool for HCQ toxicity. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - October 3, 2023 Category: Opthalmology Source Type: research
Restoration of vision by combined experimental antithymocyte therapy, and orbital radiation with high-dose steroids for severe, acute, steroid-refractory, congestive thyroid orbitopathy
ConclusionsIntensive treatment of steroid-resistant Graves ’ orbitopathy (GO) may prevent total optic nerve atrophy. Despite severely advanced optic neuropathy, this report emphasizes the necessity of therapy even with nearly complete visual function loss hence there is always a possibility to regain full visual acuity and visual field. Patients with ten se orbital septum may not present with significant exophthalmos, thus delaying the correct diagnosis of orbitopathy. A supporting sign of GO was the difference in intraocular pressure in the primary and upgaze eye positions. Electrophysiological examinations are helpful...
Source: Documenta Ophthalmologica - September 29, 2023 Category: Opthalmology Source Type: research
A natural history study of autosomal dominant GUCY2D-associated cone –rod dystrophy
ConclusionWe have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outcome parameters for future therapeutic clinical trials. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - September 29, 2023 Category: Opthalmology Source Type: research
Objective detection of visual field defects with multifrequency VEPs
ConclusionQmfrVEP responses can be measured reliably. This pilot study suggests that high SNR values exclude visual field defects and that focal defects can be identified in glaucoma patients.Trial registration:www.clinicaltrials.gov. NCT00494923. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - September 26, 2023 Category: Opthalmology Source Type: research
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1
ConclusionWe presented one case diagnosed with APS-1 based on clinical characteristics and genetic analysis. Our study demonstrated that LCA could serve as a warning sign for APS-1 and a potential trigger of early screening, which might prevent life-threatening complications. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - September 16, 2023 Category: Opthalmology Source Type: research
Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy
ConclusionIn this case, a pathogenic variant ofCAPN5 lead to a distinct phenotype of retinitis pigmentosa, posterior uveitis, vitreomacular traction, and macular hole without typical inflammatory neovascularization or tractional membranes. Therefore, the clinical variability ofCAPN5-NIV and genetic diagnosis should be considered in cases of atypical retinitis pigmentosa with bilateral macular hole. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - September 5, 2023 Category: Opthalmology Source Type: research
An early onset cone dystrophy due to CEP290 mutation: a case report
ConclusionsCEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 29, 2023 Category: Opthalmology Source Type: research
Pattern visual evoked potential and foveal sensitivity in amblyopia
ConclusionsAmblyopic eyes showed reduced pattern VEP amplitudes and delayed peak times with significant associations with the foveal sensitivity. However, the VEP measures overlapped extensively between amblyopic and control eyes with no apparent criterion value for optimal discrimination, suggesting that foveal sensitivity might be a better discriminator of amblyopia than pattern VEP. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 28, 2023 Category: Opthalmology Source Type: research
