Ontology highlight
ABSTRACT:
SUBMITTER: Ajmal M
PROVIDER: S-EPMC3380946 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Ajmal Muhammad M Khan Muhammad Imran MI Neveling Kornelia K Khan Yar Muhammad YM Ali Syeda Hafiza Benish SH Ahmed Waqas W Iqbal Muhammad Safdar MS Azam Maleeha M den Hollander Anneke I AI Collin Rob W J RW Qamar Raheel R Cremers Frans P M FP
Molecular vision 20120613
<h4>Purpose</h4>To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan.<h4>Methods</h4>Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was performed for two individuals from family A and six individuals from family B. Genotyping data ...[more]