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SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.

TitleSCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
Publication TypeJournal Article
Year of Publication2018
AuthorsJauregui, Ruben, Thomas Amanda L., Liechty Benjamin, Velez Gabriel, Mahajan Vinit B., Clark Lorraine, and Tsang Stephen H.
JournalAm J Med Genet A
Date Published2018 Dec 18

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 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.

Alternate JournalAm. J. Med. Genet. A
PubMed ID30561111
Grant List / / Research to Prevent Blindness /
2013103 / / Doris Duke Charitable Foundation / United States
Medical Student Eye Research FellowshipPhysician-Scientist Award / / Research to Prevent Blindness /
5P30CA013696 / / National Cancer Institute /