Management Guidelines
No clinical practice guidelines for NDP-related retinopathies have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with an NDP-related retinopathy, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with NDP-Related Retinopathies
System/Concern | Evaluation | Comment
Constitutional
| Height, weight, head circumference | Perform at time of clinic eval.
Ophthalmologic
involvement | By pediatric ophthalmologist | Assess best corrected visual acuity, abnormal ocular movement alignment (strabismus), intraocular pressure, refractive error.
By retina specialist /or ophthalmic geneticist | Usually referred by pediatric ophthalmologist if concern for retinal pathology on initial eye exam:
Perform ultrasonography to identify retinal detachment when media opacities are present.
Perform fluorescein angiography of fundus to identify areas of avascularity /or vascular abnormalities.
Assess need for intervention (e.g., surgery, laser, intravitreal injection).
Need for early educational intervention for low vision /or low vision clinic | Refer to early intervention low vision services in infancy, esp when visual impairment is severe.
Neurologic1
| Neurologic eval | • Brain MRI
Consider EEG if seizures are a concern.
Development1
| Developmental assessment | • Motor, adaptive, cognitive, speec...
Source: GeneReviews — "NDP-Related Retinopathies"
