PMC6440596_01
PMC6440596_02
Fundal images of patient 2. (A) The fundal image of patient 2, which shows confluent hypopigmented/pale yellow lesions in the mid-periphery. The optic disc appears to be pale with a ring of atrophy and vessels appear attenuated. (B) The far periphery of retina of the same eye of the patient, note that the hypopigmented lesions do not extend to the far periphery.
bmjophth-2018-000234f01.jpg
PMC6440596_02_bmjophth-2018-000234f01.jpg
F1
The far periphery was unaffected in both siblings (figure 1).
Fundal images demonstrating macular features in biallelic KLHL7 mutation. (A) The fundal image of patient 2 (younger sibling) which shows a depigmented area around the fovea giving a bull's-eye appearance. (B) (patient 1) A fibrotic ring around the fovea which may suggest a more advanced pathology.
bmjophth-2018-000234f02.jpg
PMC6440596_02_bmjophth-2018-000234f02.jpg
F2
In the older male there was a fibrotic ring around the fovea suggesting a more advanced pathology (figure 2).