Abstract | UNLABELLED: PATIENTS: RESULTS: The ferritin level was 1200 micrograms/L in the woman's serum, and respectively, 974 and 965 micrograms/L in the two boys' serum. The mother had a visual acuity of 8/10 in the right eye and 5/10 in the left eye. The cataract comprised fine crystalline cortical opacities, extending axially. The two sons had 7 to 8/10 in both eyes. No other ophthalmic abnormality was noted. These patients were heterozygous for a 16 bp deletion on the L-ferritin gene. DISCUSSION:
|
Authors | J Feys, M Nodarian, P Aygalenq, D Cattan, A S Bouccara, C Beaumont |
Journal | Journal francais d'ophtalmologie
(J Fr Ophtalmol)
Vol. 24
Issue 8
Pg. 847-50
(Oct 2001)
ISSN: 0181-5512 [Print] France |
Vernacular Title | Syndrome héréditaire d'hyperferritinémie et cataracte. |
PMID | 11894536
(Publication Type: Case Reports, English Abstract, Journal Article)
|
Chemical References |
|
Topics |
- Adult
- Cataract
(genetics)
- Child
- Child, Preschool
- Female
- Ferritins
(blood)
- Humans
- Iron Metabolism Disorders
(genetics)
- Male
- Pedigree
- Syndrome
|