Ontology highlight
ABSTRACT:
SUBMITTER: Jauregui R
PROVIDER: S-EPMC6349500 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Jauregui Ruben R Thomas Amanda L AL Liechty Benjamin B Velez Gabriel G Mahajan Vinit B VB Clark Lorraine L Tsang Stephen H SH
American journal of medical genetics. Part A 20181218 2
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention-deficit/hyperactivity disorder. We present the case of an 11-year-old boy that presented to our clinic with the complaint of decreased night vision. Clinical presentation, family history, and diagnostic imaging were congruent w ...[more]