James E. Elder
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View article: HIGH-RISK HISTOPATHOLOGICAL FEATURES OF RETINOBLASTOMA FOLLOWING PRIMARY ENUCLEATION
HIGH-RISK HISTOPATHOLOGICAL FEATURES OF RETINOBLASTOMA FOLLOWING PRIMARY ENUCLEATION Open
Purpose: To evaluate high-risk histopathological features following primary enucleation of eyes with retinoblastoma and assess the patient outcomes across continents. Methods: A retrospective study of 1,426 primarily enucleated retinoblast…
View article: Intraocular lacrimal gland choristoma
Intraocular lacrimal gland choristoma Open
Ectopic lacrimal glands are rare, particularly intraocularly. We present the case of an infant who presented with a fleshy, vascular intraocular lesion and subsequently developed secondary glaucoma. The patient underwent primary enucleatio…
View article: Intra-arterial chemotherapy for retinoblastoma in Australia: 11-year experience
Intra-arterial chemotherapy for retinoblastoma in Australia: 11-year experience Open
Background: Intra-arterial chemotherapy (IAC) is increasingly used in managing patients with retinoblastoma. In Australia, IAC is primarily used as a globe-salvage treatment when primary treatment has failed. Methods: A retrospective, sing…
View article: Multicenter Validation of Deep Learning Algorithm ROP.AI for the Automated Diagnosis of Plus Disease in ROP
Multicenter Validation of Deep Learning Algorithm ROP.AI for the Automated Diagnosis of Plus Disease in ROP Open
These results demonstrate ROP.AI's potential as a screening tool for the detection of plus disease in future clinical practice and provides a solution to overcome current diagnostic challenges.
View article: Pathogenic genetic variants identified in Australian families with paediatric cataract
Pathogenic genetic variants identified in Australian families with paediatric cataract Open
Objective Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to ident…
View article: Recessive variants in <i>COL25A1</i> gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Recessive variants in <i>COL25A1</i> gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder Open
A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recess…
View article: Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry
Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry Open
Purpose: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort. Design: Retrospective clinical and molecular study. Participants: All individuals with childhoo…
View article: A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract Open
Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had p…
View article: Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Recurrent Rare Copy Number Variants Increase Risk for Esotropia Open
Rare CNVs are a source of genetic variation that contribute to the genetic risk for comitant esotropia, which is likely polygenic. Future research into the functional consequences of these recurrent duplications may shed light on the patho…
View article: Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma Open
These data highlight the genetic and phenotypic heterogeneity of childhood glaucoma and support the use of gene panels incorporating FOXC1 as a diagnostic aid, especially because clinical features of Axenfeld-Rieger syndrome can be subtle.…
View article: Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect Open
This is the first genome-wide association study (GWAS) to identify significant associations in esotropia and suggests a parent-of-origin effect. Additional cohorts will permit replication and extension of these findings. Future studies of …
View article: Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic<i>CPAMD8</i>variants
Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic<i>CPAMD8</i>variants Open
Purpose Congenital glaucoma is a significant cause of irreversible blindness. In some instances glaucoma is associated with developmental abnormalities of the ocular anterior segment, which can impair drainage of aqueous humor, leading to …
View article: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia Open
Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing tech…