Michelle Alabek
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View article: Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report
Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report Open
Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenic…
View article: Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Open
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from mul…
View article: Genetic counselors' awareness and attitudes regarding gene therapies
Genetic counselors' awareness and attitudes regarding gene therapies Open
There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers lack knowledge regarding GTs, th…
View article: Recurrent Retinal Detachment in Stickler Syndrome
Recurrent Retinal Detachment in Stickler Syndrome Open
View article: An Optical Coherence Tomography-Based Measure as an Independent Estimate of Retinal Function in Retinitis Pigmentosa
An Optical Coherence Tomography-Based Measure as an Independent Estimate of Retinal Function in Retinitis Pigmentosa Open
Background: With the clinical advances in the field of gene therapy, the development of objective measures of visual function of patients with inherited retinal dystrophies (IRDs) is of utmost importance. Here, we propose one such measure.…
View article: The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment Open
Genetic counselors (GCs) have practiced in Inherited Retinal Disease (IRD) clinics for several decades. In this small subspecialty of genetic counseling, GCs are critical for patient understanding of genetic information, which can have pro…
View article: Developing a pediatric ophthalmology telemedicine program in the COVID-19 crisis
Developing a pediatric ophthalmology telemedicine program in the COVID-19 crisis Open