SCAPER‐associated nonsyndromic autosomal recessive retinitis pigmentosa. Issue 2 (18th December 2018)

• Record Type: Journal Article
• Authors: Jauregui, Ruben; Thomas, Amanda L.; Liechty, Benjamin; Velez, Gabriel; Mahajan, Vinit B.; Clark, Lorraine; Tsang, Stephen H.
• Is Part Of: American journal of medical genetics. Volume 179:Issue 2(2019)
• Page Start: 312
• Page End: 316
• Publication Date: 2018-12-18
• Subjects: autosomal recessive -- retinitis pigmentosa -- SCAPER -- syndromic disorder; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61001
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Mutations in the gene SCAPER (S ‐phase C yclinA A ssociated P rotein residing in the E ndoplasmic R eticulum) 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 with the diagnosis of autosomal recessive retinitis pigmentosa. Genetic testing of the patient and both parents via whole‐exome sequencing revealed the homozygous mutation c.2023‐2A>G in SCAPER . Unique to our patient's presentation is the absence of intellectual disability and attention‐deficit/hyperactivity disorder, suggesting that SCAPER ‐associated retinitis pigmentosa can also present without systemic manifestations.