By Elias I. Traboulsi MD
This hugely expected new version brings jointly a professional staff of authors to supply a accomplished, systematic source on genetic ailments of the attention. This richly illustrated name covers parts equivalent to: malformations; refractive error, the cornea, glaucoma and cataracts; retina and the optic nerve; eye stream problems, and systemic affliction of the attention. the recent version continues to be grounded in a valid medical method of the sufferer with a genetic ailment that has effects on the attention.
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Extra resources for Genetic Diseases of the Eye
64. D orskv RI, C h an g W S, R apaport D ll, c t al. R egulation o f neuronal diversity in the xenopus retin a by delta signaling. N ature 1997; 385:67-70. 65. G laser T, Jcpcal L, Edw ards JG, ct al. FAX -6 gene dosage effect in a fam ily w ith congenital cataracts, a n irid ia , an o p h th alm ia a n d central n erv o u s system defects. N ature G enet 1994;7:463-71. 66 . H ogan BLM, llo rs b u rg h G, C o h en J, e t al. Sm all eyes (Scy): a hom ozygous lethal m utatio n on ch ro m o so m e 2 w hich atfccts the differentiation of bo th len sa n d nasal placodes in the m ouse.
However, the C oppock cataract again involves the уE gene, which in the hum an genom e normally appears as a pseudogcne. Normally, Ц/у-Е contains a stop codon in the second intron, rem oving the C-tcrm inus. In addition, the prom oter o f the Ц'у-Е pseudogcne normally functions at a low level. In individuals with C oppock cata ract, however, there are m utations in the \|/y-E prom oter that restore the optimal TATA box prom oter sequence and result in a 10-fold increase in the expression o f Optx-2 expression w hen the prom oter expression is assayed in cultured lens fibroblasts.
Ihis knowledge may encourage a m ore complete pregnancy history when evaluating a child with a congenital anomaly. This first crucial step m ay identify a potential harm ful environmental agent. Epidemiologic studies then confirm or reject the suspicion. A nother reason for improved knowledge of teratogens is the m arked n u m b er of parents who use the Internet as a source of medical knowledge, especially when their anxiety is high because o f having had a child with a congenital anomaly. They read about the potential environmental exposures to a variety o f proven and unprovcn teratogens and look for an explanation of their child’s problems.
Genetic Diseases of the Eye by Elias I. Traboulsi MD