Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with RVCL-S

System/ConcernEvaluationComment
Eyes Ophthalmologic evaluationAssess for signs of retinopathy, macular edema, & glaucoma.
Cardiovascular Blood pressureAssess for hypertension.
Renal Renal function tests 1Consider referral to nephrologist for those w/significant renal insufficiency &/or hypertension.
Hepatology
  • Liver enzymes 2 & serum albumin
  • Consideration of serum lactate dehydrogenase levels, coagulation studies, & bilirubin concentration
Consider referral to gastroenterologist for those w/significantly altered liver enzymes or ↓ liver function.
Neurologic Assess cognitive function.Consider referral to neurologist &/or a neuropsychological evaluation.
Assess for signs & symptoms of migraines.Consider referral to neurologist.
EEG if seizures are suspected
Assess for focal neurologic complaints.Refer to neurologist, if present.
Endocrinologic Thyroid function 3Refer to endocrinologist, if clinically significant
Hematologic Complete blood countTo assess for anemia; consider referral to gastroenterologist for possible occult GI bleeding.
Rheumatologic Assess for signs & symptoms of Raynaud phenomenon.
Psychiatric Assess for psychiatric symptoms. 4Consider psychiatric consultation.
Other Consultation w/clinical geneticist &/or genetic counselor
1.

Serum creatinine, BUN, and urinalysis (to include creatinine and protein content)

2.

Aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase, gamma-glutamyltransferase (GGT)

3.

TSH and free T4

4.

Findings may include depression, psychosis, anxiety, or other psychiatric diagnoses.

From: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

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