RT Book, Section
A1 Schelvergem, Kristof Van
A1 Butera, Tina L.
A1 Bateman, J. Bronwyn
A1 Levin, Alex V.
A2 Kline, Mark W.
SR Print(0)
ID 1182927283
T1 Genetic Eye Diseases
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182927283
RD 2024/04/19
AB The  development  of  techniques  for  identifying  the  genetic  bases  for  disease  has  dramatically  increased  our  understanding  of  eye  diseases.  The  prevalence  of  genetic  disease  as  the  basis  for  significant  visual  loss  is  uncertain  and  a  function  of  the  population,  healthcare  resources,  and  cultural  values.  Genetic  factors  may  influence  development  of  the  eye  but  also  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.  Ascertainment  bias,  inconsistent  data  collection,  or  cultural  factors  influence  population-based  studies.  Autosomal  recessive  disorders  are  more  common  in  cultures  with  high  rates  of  consanguinity  (Middle  East  or  Southeast  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.