Publications by authors named "B R Fenner"
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.
View Article and Find Full Text PDFPurpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).
Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.
Article Synopsis
- The paper looks at how inherited retinal diseases (IRD) are diagnosed and treated in the Asia-Pacific region.
- They surveyed 36 centers about their practices, including how they collect patient information and provide help for low vision.
- The results showed there are important gaps, like many centers not having a database for patients, not enough genetic counselors, and a need for better support for low-vision rehabilitation.
Background: Planned gene therapies for retinitis pigmentosa (RP) depend on viable photoreceptors for efficacy. Understanding disease severity at presentation, and drivers that influence time to presentation is important when planning interventions. We examined features that influence RP severity at initial presentation.
View Article and Find Full Text PDFBackground: Frontal fibrosing alopecia (FFA) is a form of lichen planopilaris with an undetermined etiopathogenesis, predominantly affecting women. There is conflicting evidence as to whether contact allergens may play a role in the underlying etiology or progression of FFA.
Objective: The aim of this study is to find the most common products that patients search for online, identify contact allergens present in these advertised over-the-counter hair products, and suggest their role in the development or exacerbation of FFA.