Morag Shanks
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View article: Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy
Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy Open
Background: Pathogenic variants in interphotoreceptor matrix proteoglycan 1 (IMPG1) have been associated with autosomal dominant and recessive retinitis pigmentosa (RP) and autosomal dominant adult vitelliform macular dystrophy (AVMD). Mon…
View article: Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK
Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK Open
Purpose: To investigate genotype–phenotype correlations in PRPH2-retinopathies in a cohort of 36 patients from the Oxford Eye Hospital and report on novel pathogenic variants. Methods: Clinical data, including best corrected visual acuitie…
View article: Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, <i>CFAP410</i> , associated with selective cone degeneration
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, <i>CFAP410</i> , associated with selective cone degeneration Open
The non-syndromic cone dystrophy phenotype reported herein expands the genotypic and phenotypic spectra of CFAP410-associated ciliopathies and highlights the need for light of potential future genetic therapies.
View article: Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Detailed Analysis of <span><i>ITPR1</i></span> Missense Variants Guides Diagnostics and Therapeutic Design Open
Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP 3 ) receptor type 1 (IP 3 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar a…
View article: Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center Open
Our study evaluated the morphological and functional outcomes, and the side effects, of voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies (IRDs) in 12 eyes (six patients) at the Oxford Eye Hospital wi…
View article: A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation Open
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein…
View article: MERTK missense variants in three patients with retinitis pigmentosa
MERTK missense variants in three patients with retinitis pigmentosa Open
MERTK (MER proto-oncogene, tyrosine kinase) is a transmembrane protein essential in regulating photoreceptor outer segment phagocytosis. Biallelic mutations in MERTK cause retinal degeneration. Here we present the retinal phenotype of thre…
View article: Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes Open
Background: This study aimed to compare phenotype–genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Methods: Case not…
View article: Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic <i>CRB1</i> single nucleotide variant
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic <i>CRB1</i> single nucleotide variant Open
This case report records a novel pathogenic nonsense variant in CRB1 and gives an example of thinking about a base editing strategy for a patient compound heterozygous for CRB1 variants.
View article: Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL Open
Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal …
View article: Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients Open
A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fie…
View article: Association of a Novel Intronic Variant in <i>RPGR</i> With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
Association of a Novel Intronic Variant in <i>RPGR</i> With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa Open
These results support the importance of careful interpretation of inconsistent clinical phenotypes between family members. Using a molecular splicing assay, a new pathogenic variant in a noncoding region of RPGR was associated with a propo…
View article: Association of Clinical and Genetic Heterogeneity With <i>BEST1</i> Sequence Variations
Association of Clinical and Genetic Heterogeneity With <i>BEST1</i> Sequence Variations Open
These findings support the notion that ARB, BVMD, and adult-onset vitelliform macular dystrophy are clinically distinct and recognizable phenotypes and suggest that the association of autosomal recessive retinitis pigmentosa with sequence …
View article: Clinical Characterization of Retinitis Pigmentosa Associated With Variants in <i>SNRNP200</i>
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in <i>SNRNP200</i> Open
These data suggest that variants in SNRNP200 result in nonsyndromic RP with a typical phenotype of a rod-predominant dystrophy. Significant phenotypic heterogeneity and nonpenetrance were noted within some affected families. Symptom onset …
View article: Clinical and Molecular Characterization of<i>PROM1</i>-Related Retinal Degeneration
Clinical and Molecular Characterization of<i>PROM1</i>-Related Retinal Degeneration Open
In this case-series study, PROM1 recessive variants were associated with early-onset, severe panretinal degeneration. The similar phenotypes observed in patients with homozygous missense variants and splice site variants compared with simi…
View article: Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes
Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes Open
Purpose: We report two new CAPN5 mutations associated with a phenotype of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. Methods: We performed next generation sequencing in two patients with ADNIV phenotype; the variants id…
View article: Novel non‐contiguous exon duplication in choroideremia
Novel non‐contiguous exon duplication in choroideremia Open
The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a ma…