Ectopia lentis et pupillae: the genetic aspects and differential diagnosis

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

Ophthalmic genetics·2025

Scalable radiotherapy data curation infrastructure for deep-learning based autosegmentation of organs-at-risk: A case study in head and neck cancer.

Frontiers in oncology·2022

Utility of viscoelastography with TEG 6s to direct management of haemostasis during obstetric haemorrhage: a prospective observational study.

International journal of obstetric anesthesia·2021

Cataract management in children: a review of the literature and current practice across five large UK centres.

Eye (London, England)·2020

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

European journal of medical genetics·2019

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Persistent apogeotropic positional nystagmus of the lateral semicircular canal: clinical features and association with vestibular atelectasis on delayed 3D-FLAIR MRI.

Frontiers in neurology·2026

Evaluation of research productivity among academic neuro-ophthalmologists using the relative citation ratio.

Frontiers in ophthalmology·2026

An Occult Intraocular Eyelash Masquerading as Chronic Recurrent Uveitis: A Case Report.

Case reports in ophthalmology·2026

Beyond prevalence: diagnostic heterogeneity in population-based glaucoma studies in Africa-a systematic review.

Frontiers in medicine·2026

Systemic comorbidities before and after onset in Leber hereditary optic neuropathy: a descriptive study.

Ophthalmic genetics·2026

Faricimab versus Aflibercept for Discharge and Readmission in Neovascular Age-Related Macular Degeneration: A Lesion-Type Stratified, Real-World UK Analysis.

Clinical ophthalmology (Auckland, N.Z.)·2026

Related Experiment Videos

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis

Related Concept Videos

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

Scalable radiotherapy data curation infrastructure for deep-learning based autosegmentation of organs-at-risk: A case study in head and neck cancer.

Utility of viscoelastography with TEG 6s to direct management of haemostasis during obstetric haemorrhage: a prospective observational study.

Cataract management in children: a review of the literature and current practice across five large UK centres.

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Persistent apogeotropic positional nystagmus of the lateral semicircular canal: clinical features and association with vestibular atelectasis on delayed 3D-FLAIR MRI.

Evaluation of research productivity among academic neuro-ophthalmologists using the relative citation ratio.

An Occult Intraocular Eyelash Masquerading as Chronic Recurrent Uveitis: A Case Report.

Beyond prevalence: diagnostic heterogeneity in population-based glaucoma studies in Africa-a systematic review.

Systemic comorbidities before and after onset in Leber hereditary optic neuropathy: a descriptive study.

Faricimab versus Aflibercept for Discharge and Readmission in Neovascular Age-Related Macular Degeneration: A Lesion-Type Stratified, Real-World UK Analysis.

Related Experiment Videos

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis

Abstract:

Related Concept Videos

Related Articles