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Background  SLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout models, it has been postulated that SLIT2 is important for preventing inappropriate axonal routing during mammalian optic chiasm development.    Methods  Case report.    Results  Here, we report a case of congenital myopia, anisometropia, and obesity in a patient with a  SLIT2  point mutation. Examination of the patient’s skin biopsy revealed abnormalities in elastin and collagen fibrils that suggest an underlying connective tissue disorder. Structural modeling placed the novel mutation (p.D1407G) in the EGF-like domain 8 and was predicted to affect interactions with SLIT2 binding partners.    Conclusions  To the authors’ knowledge, this is the first report of a  SLIT2  variant in the context of these ocular findings.    Electronic supplementary material  The online version of this article (10.1186/s13023-018-0885-4) contains supplementary material, which is available to authorized users.

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity