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Abstract Details

Identification of a novel mutation in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: Case Report and A Review of Literature
P6 - Poster Session 6 (12:00 PM-1:00 PM)

30-year-old male with a history of developmental delay, jaw expansion surgery and cosmetic otoplasty being evaluated for optic atrophy.  Neuropsychiatric testing showed a very high functioning verbal processing but significantly impaired visuo-spatial processing. Therefore, he underwent targeted genetic sequencing analysis.

To identify a common genetic mutation linking developmental delay and optic atrophy. 

Case Report and a Review of Literature.  A PubMed search using the term Bosch-Boonstra-Schaaf Optic Atrophy Syndrome showed total 8 publications and only 4 were clinically relevant.

On ophthalmologic examination, visual acuity was OD 20/30, OS 20/30; normal color vision; normal pupillary reaction and extraocular motility.  With Goldman perimetry testing visual field showed normal central and peripheral isopters OD, but constriction of I4e isopter inferonasally and of central I2e isopter with baring of the blind spot OS.  Retinal OCT revealed bilateral nerve fiber thinning.  MRI Brain and Orbit showed decrease in the size of right optic nerve.  A c.82C>T (p.Gln28*) pathogenic mutation was identified in the NRF21 gene in a heterozygous state. 

BBSOAS is a recently identified disease entity presenting with optic atrophy, intellectual disability, developmental delay and autism spectrum disorder.  To date less than 30 cases have been described.  BBOAS is inherited in an autosomal dominant fashion however most patients have a de novo mutation in NRF21 gene.  This pathogenic mutation has not been described and is absent from Genome Consortium Database (GCD).  The c.82C>T point mutation results in the creation of a premature stop codon at amino acid position 28, pGln28*. This results in an abnormal transcript which may be degraded or may lead to the production of truncated NRF21 with potentially abnormal function. With more frequent genetic testing in patients with developmental delay and optic atrophy of unknown etiology, more cases BBSOAS could be diagnosed.  Further longitudinal studies are needed to describe long term outcomes.
Sushant Puri, MBBS (Johns Hopkins Medical Institute)
Dr. Puri has nothing to disclose.
No disclosure on file
James A. Goodwin, MD, FAAN (University of Illinois At Chicago) No disclosure on file
Brooke Johnson, DO (UIC) No disclosure on file