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SCAPER‐associated nonsyndromic autosomal recessive retinitis pigmentosa |
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| Authors: | Ruben Jauregui Amanda L. Thomas Benjamin Liechty Gabriel Velez Vinit B. Mahajan Lorraine Clark Stephen H. Tsang |
| Affiliation: | 1. Department of Ophthalmology, New York‐Presbyterian Hospital, New York, New York;2. Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, New York;3. Weill Cornell Medical College, New York, New York;4. Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York;5. Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California;6. Palo Alto Veterans Administration, Palo Alto, California;7. Taub Institute for Research on Alzheimer's Disease and Aging Research, Columbia University Irving Medical Center, New York, New York;8. https://orcid.org/0000-0001-9082-2427;9. Stem Cell Initiative (CSCI), Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York;10. Stephen H. Tsang, Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY 10032. |
| 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. |
| Keywords: | autosomal recessive retinitis pigmentosa SCAPER syndromic disorder |