Samantha Malka
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View article: #ECR-Paper-04 Genotype-phenotype correlation of<i>CYP1B1</i>variants
#ECR-Paper-04 Genotype-phenotype correlation of<i>CYP1B1</i>variants Open
View article: #ECR-Paper-01 Metabolic dysregulation without gut barrier dysfunction in<i>CRB1</i>-related retinopathies
#ECR-Paper-01 Metabolic dysregulation without gut barrier dysfunction in<i>CRB1</i>-related retinopathies Open
View article: #ECR-Poster-03 Interrogation of open-access RNA-sequencing datasets of anterior segment tissues to potentially identify novel childhood glaucoma genes
#ECR-Poster-03 Interrogation of open-access RNA-sequencing datasets of anterior segment tissues to potentially identify novel childhood glaucoma genes Open
View article: Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography
Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography Open
Background: A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with CRB1-associated retinopathies: macular dystrophy (MD), cone-rod dystrophy (CORD), and early-onset severe retinal dystrophy/Leber cong…
View article: A Novel De Novo Missense Variant in Netrin‐1 (<i>NTN1</i>) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly
A Novel De Novo Missense Variant in Netrin‐1 (<i>NTN1</i>) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly Open
Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic compo…
View article: Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression Open
View article: Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing Open
Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing i…
View article: Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project Open
Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis an…
View article: PHYH c.678+5G&gt;T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease Open
We demonstrate a significant effect of PHYH:c.678+5G>T on splicing of the canonical transcript. The in-frame nature of this may be in keeping with a mild presentation and higher prevalence in the general population. These data support the …
View article: Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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View article: Foveal Hypoplasia in CRB1-Related Retinopathies
Foveal Hypoplasia in CRB1-Related Retinopathies Open
The CRB1 gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod …
View article: Coats-like Vasculopathy in Inherited Retinal Disease
Coats-like Vasculopathy in Inherited Retinal Disease Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma Open
Background/aims Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understandi…
View article: Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics Open
Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic…
View article: Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism Open
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosoma…
View article: Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0–25 with Bilateral Cataracts
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0–25 with Bilateral Cataracts Open
Childhood cataract affects 2.5–3.5 per 10,000 children in the UK, with a genetic mutation identified in 50–90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex o…
View article: Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom Open
Overall, approximately one‐quarter of patients with genetic eye diseases will receive a molecular diagnosis. Patients with developmental eye disorders face a number of diagnostic challenges including phenotypic heterogeneity with significa…
View article: Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom Open
View article: Practical guide to genetic screening for inherited eye diseases
Practical guide to genetic screening for inherited eye diseases Open
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its …
View article: Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Open