Table 6.

Recommended Surveillance for Individuals with CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy

System/ConcernEvaluationFrequency
Ophthalmologic involvement Ophthalmology examAnnually or per treating ophthalmologist(s)
Neurologic Neurologic examAnnually
Orthopedics / physical medicine & rehab / PT & OT evalAs needed
Development Monitor developmental progress & educational needs.At each visit throughout childhood
Endocrine Endocrine eval to assess growth, fertility issues, & osteopeniaAnnually

OT = occupational therapy; PT = physical therapy

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

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