Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction
Inner retinal cavitations in three cases of NR2E3-associated retinopathy
Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations
Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort
CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort
Macular and optic nerve hypoplasia in chromosome 2p partial trisomy
Role of additional topotecan injections (plus two) in reducing recurrence rate in retinoblastoma of group D and group E patients: a retrospective study
CERKL related autosomal recessive retinitis pigmentosa – A report on four affected members from a single family
Infrared Photography: A Novel Diagnostic Approach for Ocular Surface Abnormalities Due to Vitamin A Deficiency
High-dose intravitreal topotecan (100 mcg/0.1cc) as monotherapy for recurrent/refractory intraocular retinoblastoma in seven eyes
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome
Vitamin A deficiency presenting with ptosis and optic neuropathy in child with autism spectrum disorder
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