A three-generation Chinese family with clear diagnosis of ADCC and myopia was identified (Figure 1). All affected individuals in this family had lamellar opacity cataracts (Figure 2) in total 11 family members (six affected and five unaffected) participated in the study (Table 2). The proband was a 16-year-old girl (III:7), whose vision had decreased since birth. She was diagnosed with bilateral cataract at the age of four and myopia at 7 years old. An affected member (III:6), the 22-year-old sister of the proband, was diagnosed with bilateral cataract and myopia at the age of seven, and underwent right eye’s cataract extraction at the age of ten. Another affected member (II:9), whose phenotype was similar with the proband, had obvious lamellar and cortical opacity. According to the medical records, other affected individuals diagnosed with bilateral lamellar cataract and myopia have been treated with cataract extraction in different years.
Figure 1
A three-generation Chinese family with clear diagnosis of ADCC and myopia
Figure 1
A three-generation Chinese family with clear diagnosis of ADCC and myopia
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Figure 2
The patient with amellar opacity cataracts
Figure 2
The patient with amellar opacity cataracts
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Table 2
Clinical data of affected members in this family
ID:GenderAge at first symptomVisual acuityPhenotypeAxial length
ODOSODOS
I:2 Female NA 0.08 0.08 NA NA NA 
II:2 Female At birth 0.2 0.3 Lamellar NA NA 
II:7 Female At birth 0.3 0.3 Lamellar 27.32 26.82 
II:9 Male At birth 0.1 0.2 Lamellar, cortical 27.21 27.10 
III:6 Female At birth 0.4 0.3 Lamellar 26.16 25.53 
III:7 Female At birth 0.3 0.4 Lamellar 25.23 25.21 
III:9 Female At birth 0.4 0.5 Lamellar NA NA 
ID:GenderAge at first symptomVisual acuityPhenotypeAxial length
ODOSODOS
I:2 Female NA 0.08 0.08 NA NA NA 
II:2 Female At birth 0.2 0.3 Lamellar NA NA 
II:7 Female At birth 0.3 0.3 Lamellar 27.32 26.82 
II:9 Male At birth 0.1 0.2 Lamellar, cortical 27.21 27.10 
III:6 Female At birth 0.4 0.3 Lamellar 26.16 25.53 
III:7 Female At birth 0.3 0.4 Lamellar 25.23 25.21 
III:9 Female At birth 0.4 0.5 Lamellar NA NA 

The visual acuity column(s) indicates the current visual acuity of the affected members, “NA” indicates not available.

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