Table 1 Clinical characteristics and results of corneal confocal microscopy and optical coherence tomography in the affected individuals and their healthy sibling. ^*Normal laboratory range for cholesterol, triglyceride, HDL, LDL and HbA1c provided

Age (years)

32

33

26

Gender (male/female)

Male

Female

Male

Cholesterol, mmol/l

4.7

4.0

<5.2^*

Triglycerides, mmol/l

2.0

1.3

<1.7^*

HDL, mmol/l

0.8

1.3

>1.6^*

LDL, mmol/l

3.0

2.2

<2.6^*

HbA1c (%)

8.2

5.5

<5.7^*

Corneal Confocal Microscopy

 CNFD, no./mm²

29.2 ± 9.3

31.3 ± 10.8

40.6 ± 8.7

 CNBD, no./mm²

22.9 ± 13.3

43.8 ± 32.9

73.9 ± 24.9

 CNFL, mm/ mm²

14.8 ± 3.3

16.6 ± 5.9

22.9 ± 4.6

Optical Coherence Tomography

 Parameters

Proband

Affected sibling

Control

 Eye

Right

Left

Right

Left

Right

Left

 Nasal Superior, (µm)

35

123

94

116

123

 Nasal, (µm)

13

50

63

58

50

 Nasal Inferior, (µm)

13

89

64

129

143

 Temporal Inferior, (µm)

102

129

104

129

125

 Temporal, (µm)

48

49

27

63

66

 Global, (µm)

50

79

73

94

96

 Temporal Superior, (µm)

132

71

119

133

147