PMC8241224_01
Family tree of the proband.
fendo-12-581134-g001.jpg
PMC8241224_01_fendo-12-581134-g001.jpg
f1
Girl's maternal and paternal grand grandfathers were brothers ( Figure 1 ).
PMC8241224_02
Color fundus photographs [(A) at the age of 2 yrs.], [(B) at the age of 6 yrs. [(C) at the age of 7 yrs.] showing the progression of the optic disc pallor with retinal arteriolar narrowing and pigment mottling; OCT image [(D) at the age of 7 years, showing thinner retina predominantly the outer retinal layer with irregularities] AF [(E) at the age of 10 years, showing hyper-fluorescent ring around the macula with irregular fluorescence of the posterior pole].
fendo-12-581134-g002.jpg
PMC8241224_02_fendo-12-581134-g002.jpg
f2
Optic Coherence Topography (Topcon 1000) analysis determined reduced retinal thickness with irregularities, predominantly of the outer retinal layer ( Figure 2 ). Orthophoria, reduced visual acuity, and color vision with concentrically narrowed visual fields became evident.
PMC8241224_03
Growth charts.
fendo-12-581134-g003.jpg
PMC8241224_03_fendo-12-581134-g003.jpg
f3
As illustrated in  Table 1  and  Figure 3 , the girl was tall since the second year of life.