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Dental evaluation to assess for hygiene, dental crowding, and hypodontia Neurologic examination to assess for ataxic gait, poor coordination, dysdiadochokinesia, inability to perform tandem gait walking, poor two-point discrimination, and diminished fine motor skills Consider referral to a clinical geneticist. Affected individuals have no light perception by age 20 years.

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Treatment of Manifestations No therapy exists for the progressive visual loss, but early evaluation by a low-vision specialist facilitates introduction of low vision aids and mobility training. This juxtaposes cisgender, or those who identify with their assigned gender.

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  1. More detailed information for clinicians ordering genetic tests can be found here. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use.

  2. Several affected women have successfully given birth; only two affected males have been reported to have fathered children [ Beales et al ]. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affected , are carriers, or are at risk of being carriers.