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SCAPER ‐associated nonsyndromic autosomal recessive retinitis pigmentosa
Author(s) -
Jauregui Ruben,
Thomas Amanda L.,
Liechty Benjamin,
Velez Gabriel,
Mahajan Vinit B.,
Clark Lorraine,
Tsang Stephen H.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61001
Subject(s) - retinitis pigmentosa , medicine , exome sequencing , consanguinity , genetics , intellectual disability , pediatrics , mutation , presentation (obstetrics) , ophthalmology , gene , biology , psychiatry , surgery , retinal
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.