Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with NDP-Related Retinopathies

System/ConcernEvaluationComment
Constitutional Height, weight, head circumferencePerform at time of clinic eval.
Ophthalmologic
involvement 		By pediatric ophthalmologistAssess best corrected visual acuity, abnormal ocular movement & alignment (strabismus), intraocular pressure, refractive error.
By retina specialist &/or ophthalmic geneticistUsually 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 clinicRefer to early intervention low vision services in infancy, esp when visual impairment is severe.
Neurologic 1 Neurologic eval
  • Brain MRI
  • Consider EEG if seizures are a concern.
Development 1 Developmental assessment
  • Motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 1 		Mental health eval by pediatrician &/or developmental pediatrician
  • Screen all children (regardless of age) for sleep disturbances, as infants w/no light perception may need consultation w/sleep specialist & possible systemic treatment.
  • For persons >12 mos: screen for behavior concerns incl ADHD, anxiety, &/or findings suggestive of ASD.
Musculoskeletal/
ADL 1 		Orthopedics / physical medicine & rehab / PT & OT evalIncl 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)
Hearing 1 Audiologic evalAssess for hearing loss & need for early intervention program.
Peripheral
vascular
disease 1 		History & physical findings for peripheral vascular disease after age 15 yrs
  • Skin exam for evidence of peripheral vascular-related changes
  • In adult males, history of erectile dysfunction
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of NDP-related retinopathies to facilitate medical & personal decision making
Family support
& resources 		By genetics professionals 2 or primary care
  • Referral to online resources and support organizations
  • Referral to state services for the blind or deaf-blind
  • Ongoing coordinated care through specialized clinics 3
  • Social services

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Applies for all males with the Norrie disease ocular phenotype and any person with an NDP-related retinopathy who has extraocular manifestations needing further evaluation

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

3.

From: NDP-Related Retinopathies

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