Fig. 1

Pedigree of the LCA family with a CRB1 variant, sequencing chromatogram, and diagnostic fundus. a Pedigree of the LCA family with a CRB1 variant. The proband is marked by an arrow, black symbols denote affected members, white symbols denote unaffected members, squares denote males, and circles denote females. b Sequencing chromatograms. The affected proband showed a homozygous variant in the CRB1 gene: nucleotide 1499 changed from a cytosine to guanine (c.1499C>G) homozygous variant, resulting in a nonsense variant of amino acids (p. S500*), her parents and sister show a heterozygous variant at the same site. c Diagnosis of the fundus. Both eyes of the proband showed pigmentation of the retina at the posterior pole that was peppery and salt-like, and the macular area was a mass of lesions with a large amount of pigmentation. d Her 5-year-old sister’s fundus is normal, and the same is true for her parents