genetic counseling referral
Formal recommendation for genetic evaluation when ocular findings suggest hereditary conditions affecting vision.
Full Definition
A genetic counseling referral in pediatric ophthalmology is made when examination findings suggest inherited ocular or systemic conditions that may have genetic implications for the patient and family. Common indications include congenital cataracts, albinism, hereditary retinal dystrophies, congenital glaucoma, and syndromic conditions with ocular manifestations. The referral facilitates comprehensive genetic evaluation, family history analysis, genetic testing when appropriate, and counseling regarding inheritance patterns, recurrence risks, and family planning considerations. This multidisciplinary approach ensures families receive complete information about hereditary conditions and access to appropriate genetic services and support resources.
Usage
Usage note: Include specific indications and relevant family history in referral documentation.
In Context
- "The bilateral congenital cataracts and family history warranted a genetic counseling referral for further evaluation." — Referral documentation
- "A genetic counseling referral was arranged to discuss inheritance patterns and testing options for the retinal dystrophy." — Family counseling note