Clinical features
All patients, notably the only affected male family member, had a
history of early-onset HM before the age of 7 years, without other
ocular diseases or systemic comorbidities. The clinical description of
family members is shown on Table 1. Affected members demonstrated
peripapillary atrophy, tigroid appearance and depigmentation changes
after fundus photographs examination (Figure 1). The only male patient
in the family (II: 1) stated that he had trouble seeing since childhood,
and began to wear glasses for myopia until he was 20 years old. His
spherical equivalent in the right eye (OD) is -12.00 D and the left (OS)
is -11.00 D.