Associated Papers
Evolution of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant.
Amato A et al.
American Journal of Ophthalmology Case Reports, 2025
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy.
Liu X et al.
Bmc Ophthalmology, 2024
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
[Clinical features of Best vitelliform macular dystrophy].
Ouyang YL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007
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