Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Monika K Grudzinska PechhackerAnna MolnarNadja Pekkola PachecoHåkan ThonbergLaurence QueratUlrika BirkeldhAnn NordgrenAnna LindstrandPublished in: Ophthalmic genetics (2023)
-related retinal degeneration is very rare and isolated reduced function of cone photoreceptors has not previously been observed.