Associated Papers
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
Wolfram L et al.
Bmc Ophthalmology, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness.
Aghazadeh H et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Leahy KE et al.
Genes, 2021
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