Table 6. [Recommended Surveillance for Individuals with NDP-Related Retinopathies]. - GeneReviews®

System/Concern	Evaluation	Frequency
Ophthalmologic involvement	Visual acuity, ocular alignment, measurement of intraocular pressure & refractive error, dilated fundus exam	In infancy: 1x/mo & per treating ophthalmologist (as frequency may be 1 or 2x/wk if concerns about imminent progression)
Seizures	Assess response to medications &/or changes in seizure type.	At each visit & per family concerns
Development	Monitor developmental progress & educational needs.	At each visit
Psychiatric/ Behavioral	Behavioral assessment for evidence of ASD, anxiety, ADHD, &/or depression	At each visit & per family concerns
Musculoskeletal/ ADL	Physical medicine, OT/PT assessment of mobility, self-help skills	At each visit
Sensorineural hearing loss	Audiogram incl assessment of speech discrimination	For those w/known hearing loss: per treating audiologist For those w/o known hearing loss: prior to onset of language, frequent eval; thereafter, every 6 mos
Peripheral vascular disease	Eval by primary care provider	Annually after age 16 yrs
Erectile dysfunction	By patient history	At each visit
Family/ Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination or follow-up genetic counseling if new questions arise (e.g., family planning).

System/Concern

Evaluation

Frequency

Ophthalmologic
involvement

Visual acuity, ocular alignment, measurement of intraocular pressure & refractive error, dilated fundus exam

In infancy: 1x/mo & per treating ophthalmologist (as frequency may be 1 or 2x/wk if concerns about imminent progression)

Seizures

Assess response to medications &/or changes in seizure type.

At each visit & per family concerns

Development

Monitor developmental progress & educational needs.

At each visit

Psychiatric/
Behavioral

Behavioral assessment for evidence of ASD, anxiety, ADHD, &/or depression

At each visit & per family concerns

Musculoskeletal/
ADL

Physical medicine, OT/PT assessment of mobility, self-help skills

At each visit

Sensorineural
hearing loss

Audiogram incl assessment of speech discrimination

For those w/known hearing loss: per treating audiologist
For those w/o known hearing loss: prior to onset of language, frequent eval; thereafter, every 6 mos

Peripheral
vascular disease

Eval by primary care provider

Annually after age 16 yrs

Erectile
dysfunction

By patient history

At each visit

Family/
Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination or follow-up genetic counseling if new questions arise (e.g., family planning).

From: NDP-Related Retinopathies

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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