Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review
Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia
CERKL related autosomal recessive retinitis pigmentosa – A report on four affected members from a single family
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome
Can a Portable Flash Visual Evoked Potential (VEP) Device Identify Chiasmal Decussation Anomalies in Albinism?
Evaluating ocular health in retinal gene therapies
De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review
Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy
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