Lens changes in hereditary hyperferritinemia-cataract syndrome.
OBJECTIVE
To provide detailed description and illustration of the lens changes found in hereditary hyperferritinemia-cataract syndrome, a newly reported autosomal dominant condition.


METHODS
Observational case reports. A 19-year-old man was referred for evaluation of possible hereditary hyperferritinemia-cataract syndrome. His serum ferritin level was increased at 1291 microg/L during a routine screening examination. Genetic analysis revealed mutation G51C on chromosome 19, predicting an altered iron response element in L-ferritin mRNA. Subsequent evaluation of his 46-year-old father revealed similar findings.


RESULTS
Multiple breadcrumb-like nuclear and cortical lens opacities were seen in this father-son pair. These cases represent the first detailed description and illustration of hereditary hyperferritinemia-cataract syndrome cataracts in the ophthalmic literature.


CONCLUSIONS
Hereditary hyperferritinemia-cataract syndrome can be associated with distinct breadcrumb-like lens opacities. Recognition of these characteristic cataracts may aid identification and study of patients with this unusual disorder and provide insight into mechanisms of cataract formation.
Chang-Godinich
A
A
Baylor College of Medicine, Cullen Eye Institute, Houston, Texas, USA.
Ades
S
S
Schenkein
D
D
Brooks
D
D
Stambolian
D
D
Raizman
M B
MB
D000328:Adult; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics; D007908:Lens, Crystalline / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis; D013577:Syndrome; D014792:Visual Acuity
D012333:RNA, Messenger; D005293:Ferritins