Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy

System/ConcernEvaluationComment
Eyes Ophthalmologic examAssess for cataracts & other ocular manifestations.
Neurologic Neurologic exam incl measurements of nerve conduction velocityAssess for peripheral neuropathy & cerebellar involvement.
Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Endocrine Endocrinology evalAssess growth, fertility issues, & osteopenia.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CTDP1-CCFDN to facilitate medical & personal decision making

ADL = activities of daily living; CTDP1-CCFDN = CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy

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