Fundus photographs from Case 21 with unilateral optic nerve hypoplasia left eye.
Fundus photographs from Case 21 with unilateral optic nerve hypoplasia and heterozygous missense variants in COL4A1 and OPA1 showing (A) a normal optic disc in the right eye and (B, magnified image) optic nerve hypoplasia in the left eye with a small optic disc (arrow) and a surrounding peripapillary atrophy. Case 21 was born full term and was treated with patching from 11 months of age because of strabismus (esotropia left eye). She was lost to follow-up and unilateral optic nerve hypoplasia was diagnosed after the visual screening at four years of age. The BCVA was 1.0 right and 0.03 left eye at 15 years of age. She had a precocious puberty from seven years of age and is normally developed.