Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene
CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort
Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy
First genetically confirmed case of CABP4-related cone-rod synaptic disorder from India
A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family
Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review
Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
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
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