Abstract
Lens examinations were performed on 7 obligate and 7 possible carriers of the X-linked gene for Lowe's syndrome, and on 117 controls. By quantitatively grading punctate cortical opacities, it was possible to discriminate between the obligate carriers and the controls with a fair degree of confidence. In the age group most important for genetic counselling, that of child bearing, the data are too limited for the derivation of precise estimates, but may, nevertheless, be useful. More such data are needed.
Full text
PDF





Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Brown N. An advanced slit-image camera. Br J Ophthalmol. 1972 Aug;56(8):624–631. doi: 10.1136/bjo.56.8.624. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brown N., Gardner R. J. Lowe syndrome: identification of the carrier state. Birth Defects Orig Artic Ser. 1976;12(3):579–595. [PubMed] [Google Scholar]
- Brown N. Macrophotography of the anterior segment of the eye. Br J Ophthalmol. 1970 Oct;54(10):697–701. doi: 10.1136/bjo.54.10.697. [DOI] [PMC free article] [PubMed] [Google Scholar]
- DENT C. E., SMELLIE J. M. Two children with the oculo-cerebrorenal syndrome of Lowe, Terrey and MacLachlan. Proc R Soc Med. 1961 Apr;54:335–337. [PMC free article] [PubMed] [Google Scholar]
- DUNDAS J. B. LOWE'S SYNDROME. Proc R Soc Med. 1964 Sep;57:837–837. [PMC free article] [PubMed] [Google Scholar]
- GREAVES D. P. Symposium on metabolic diseases of the eye, Cystinosis. Ocule-cerebro-renal (Lowe's) syndrome. Proc R Soc Med. 1963 Jan;56:25–26. [PMC free article] [PubMed] [Google Scholar]
- Holmes L. B., McGowan B. L., Efron M. L. Lowe's syndrome: a search or the carrier state. Pediatrics. 1969 Sep;44(3):358–364. [PubMed] [Google Scholar]