Bosch-Boonstra-Schaaf optic atrophy syndrome

Optic Atrophy with Intellectual Disability

Clinical Characteristics
Ocular Features: 

Optic atrophy is the primary ocular abnormality but visual deficits are said to originate from cortical impairment.  The optic discs are pale and may be small with excavation.  Strabismus and latent nystagmus are often present. Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported.

Systemic Features: 

Facial dysmorphism of a non-specific pattern can be present as evidenced by protruding ears with helical anomalies, and a small, sometimes elevated nasal bridge. The fingers are small and tapered.  Developmental delay is common.  Obsessive-compulsive behavior and autistic features have been reported in a single individual.  Hypotonia may be present.


This is an autosomal dominant disorder resulting from heterozygous mutations in the NR2F1 gene (5q15), a transcription regulator.   Six persons with this condition have so far been reported.  The gene product is a nuclear protein active in transcription regulation during neurodevelopment.

Autosomal dominant
Treatment Options: 

Only symptomatic treatment is available.  Low vision aids and special education may be of benefit.

Article Title: 

NR2F1 mutations cause optic atrophy with intellectual disability

Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6;94(2):303-9.

PubMed ID: 
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