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Ophthalmic genetics


If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or follow local emergency care protocols or seek emergent medical advice if in a remote region.

  • No referrals to emergency relating to clinical genetics
  • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.
  • If there are any queries regarding the appropriateness of a referral please contact GHQ.
  • If the patient is an UNTESTED blood relative of a person with an identified gene mutation/chromosomal anomaly, please refer to the following CPC:
  • Patients will be asked to provide detailed family information either during a telephone consultation or via a family history questionnaire. One or more ‘Consent to Release information’ forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
  • Examples of conditions where individuals might be referred include a confirmed or suspected diagnosis/family history of:
    • congenital cataracts
    • eye malformations (microphthalmia, anophthalmia, microcornea)
    • lens dislocations
    • vitreoretinopathy
    • retinal dystrophy
    • ocular/oculocutaneous albinism
  • Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC

Clinician resources

Patient resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • The patient has a personal and/or any family history (blood relatives) of an ophthalmic genetic diagnosis AND the patient or their partner is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy
  • Category 2
    (appointment within 90 calendar days)
    • The patient has a personal history of an ophthalmic genetic diagnosis AND is currently on or about to go onto a palliative care pathway
  • Category 3
    (appointment within 365 calendar days)
    • The patient has a personal and/or family history (blood relatives) of an ophthalmic genetic diagnosis, with/without a specific gene mutation identified on a genetic test

1. Reason for request Indicate on the referral

  • To establish a diagnosis
  • For treatment or intervention not otherwise accessible to the patient
  • For advice regarding management
  • To engage in an ongoing shared care approach between primary and secondary care
  • Reassurance for GP/second opinion
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)

2. Essential referral information Referral will be returned without this

  • As much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency (see above)
    • clinical diagnosis and features
    • age at diagnosis
    • treatment (completed and planned)
    • relevant pathology (if results are available on Auslab please indicate this on referral)
    • relevant organ specific diagnostic investigations and/or imaging results (especially ERG and MRI/CT) (if results are available within ieMR please indicate this on referral)
    • details and results of genetic testing if performed
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC
  • Presence or absence of relevant family (blood relatives) history

3. Additional referral information Useful for processing the referral

  • Known details of relevant family history (first and second-degree blood relatives) including:
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
  • If the family is known to GHQ, the GHQ reference number (GF)
  • If the family are known to another genetic service, the name of the service and family reference number (if available)

4. Request

Patient's Demographic Details

  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander

Referring Practitioner Details

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

Relevant clinical information about the condition

  • Presenting symptoms (evolution and duration)
  • Physical findings
  • Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
  • Body mass index (BMI)
  • Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
  • Current medications and dosages
  • Drug allergies
  • Alcohol, tobacco and other drugs use

Reason for request

  • To establish a diagnosis
  • For treatment or intervention
  • For advice and management
  • For specialist to take over management
  • Reassurance for GP/second opinion
  • For a specified test/investigation the GP can't order, or the patient can't afford or access
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)
  • Clinical judgement indicates a referral for specialist review is necessary

Clinical modifiers

  • Impact on employment
  • Impact on education
  • Impact on home
  • Impact on activities of daily living
  • Impact on ability to care for others
  • Impact on personal frailty or safety
  • Identifies as Aboriginal and/or Torres Strait Islander

Other relevant information

  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)
  • Please note that where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service.  Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.

  • A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.

  • Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.