Abstract | BACKGROUND: PATIENTS: A 2-year-old Turkish girl (daughter of first cousins) presented with dense cortical and subcapsular opacifications and mature cataract respectively. Bilateral phacectomy, planned posterior capsulotomy, transpapillary vitrectomy and implantation of a posterior chamber lens were performed. The child was otherwise healthy and the pregnancy had been unremarkable. The 25-year-old mother showed circumscribed drop-like opacities of the lens cortex bilaterally, the 5-year-old sister a diffuse opacification of the lens cortex in both eyes, the 27-year-old father and the 13-year-old uncle clear lenses. RESULTS: CONCLUSIONS:
Cataract-formation in this family is most likely due to a defect in the galactitol pathway, e.g. cataract in galactosemia without known enzyme defect (Shin-Jakobs disease). In patients with unexplained congenital or infantile cataracts, disorders of the polyol pathway should be thoroughly checked for to ensure a therapeutic diet if necessary.
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Authors | M Budde, G C Gusek-Schneider, A Jünemann, F Jansen, Y S Shin |
Journal | Klinische Monatsblatter fur Augenheilkunde
(Klin Monbl Augenheilkd)
Vol. 215
Issue 4
Pg. 255-7
(Oct 1999)
ISSN: 0023-2165 [Print] Germany |
Vernacular Title | Familiäre Katarakt bei Galaktitol-Erhöhung im Plasma ohne bekannten Enzymdefekt. |
PMID | 10572890
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Adult
- Cataract
(genetics)
- Child, Preschool
- Consanguinity
- Female
- Galactitol
(blood)
- Humans
- Lenses, Intraocular
- Male
- Pedigree
- Pregnancy
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