Fifteen members of a family where most of its components had cataracts of early onset have been studied.
In one of them (patient II: 8) serum hyperferritinemia had been detected in an examination performed for hepatomegaly of unknown etiology.
This patient underwent a liver biopsy whose result was normal.
Hyperferritinemia led us to suspect that HHS could be the cause of cataracts in this patient.
The discovery of hyperferritinemia in two other components of this family confirmed our suspicions and it was decided to complete the examination in the rest.
Therefore, serum ferritin levels were measured in the fifteen limbs.
In phakic patients, the lens was examined in the cleft lip looking for cataracts.
In those patients who had already undergone cataract surgery, the age at diagnosis of cataracts and the age at which they had been operated were questioned.
Molecular analysis was performed in six patients to determine the iron regulatory element of L-ferritin.
In addition, ferritin levels in the crystalline lens of three affected patients undergoing cataract surgery were measured during this study and compared with the levels of six healthy controls also operated.
1.
Of the fifteen members studied, five had already undergone cataract surgery and seven showed very similar crystalline opacities with a pulsating aspect in all cases.
These twelve patients had abnormally high serum ferritin levels ranging between 794 and 2,610 mg/L (the normal range is between 15 and 300 mg/L).
The other three patients did not show lens opacities and their ferritin levels were normal.
Four of the subjects with lens opacities underwent bilateral cataract surgery while this study was conducted.
The age at which cataracts were diagnosed ranged from 1 to 27 years.
The age at which cataract surgery had been performed was between 6 and 80 years.
Molecular analysis with the iron regulatory element sequence was performed in six affected patients and all were positive for a mutation at position 32.
The clinical information and ferritin levels of the patients concerned are shown in Table 1.
1.
Ferritin levels in the crystalline of the three affected patients operated during this study were in the three cases above 14,000 mg/L, while the levels of the six healthy controls ranged between 19 and 505 mg/L.
