RT Book, Section
A1 Bateman, Bronwyn
A1 Roarty, John
A1 Butera, Christina L.
A1 Levin, Alex V.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7060315
T1 Chapter 592. Genetic Eye Diseases
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7060315
RD 2024/04/24
AB The  development  of  techniques  for  identifying  the  genetic  bases  for  disease  has  resulted  in  an  increase  in  the  understanding  of  eye  diseases.  The  prevalence  of  genetic  disease  as  a  basis  for  significant  visual  loss  is  uncertain  and  dependent  on  the  population,  health  care  resources,  and  cultural  values.  Genetic  factors  may  influence  normal,  stable  development  of  the  eye  but  may  cause  a  progressive  deterioration  over  time.  Although  a  specific  mutation  of  a  gene  may  result  in  a  consistent  phenotype,  variation  is  common  and  may  reflect  the  effect  of  other  genes  or  environmental  factors.  Complex  diseases,  such  as  myopia  and  strabismus,  probably  have  both  genetic  and  environmental  bases.  Population-based  studies  may  be  influenced  by  ascertainment  bias,  inconsistent  data  collection,  or  cultural  factors.  Autosomal  recessive  disorders  are  more  common  in  consanguineous  cultures  such  as  occur  in  the  Middle  East  or  Asia.  Other  disorders,  such  as  the  group  of  diseases  called  retinitis  pigmentosa,  have  a  more  uniform  geographic  prevalence  rate  of  20  to  40  per  100,000  worldwide.  With  the  completion  of  the  Human  Genome  Project  (http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml)  and  the  rapid  development  of  improved  analytical  tools,  a  new  understanding  of  the  genetic  bases  of  eye  diseases  offers  the  hope  of  understanding  causes  and  identifying  cures.