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
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber
Multimodal analysis of two siblings with Oguchi disease.
Suspected case of benign familial fleck retina with functional loss
Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.
Leber congenital amaurosis as the initial and essential manifestation
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