OPT313 Hereditary Macular Disorders 2

Ocular Health and Disease II: Hereditary Macular Disorders

Learning Outcomes

• Utilize knowledge of eye anatomy & physiology to explain:

  • Epidemiology of ocular diseases

  • Aetiology and pathological changes

  • Signs, symptoms, and terminology

  • Effects on visual function

• Diagnose complex ocular diseases from presenting signs and symptoms

• Apply investigative strategies to differentially diagnose ocular diseases

• Manage and refer patients appropriately, proposing medical treatments

Content Overview

• Definition of Macular Dystrophy

• Patient journey from optometrist to ophthalmology:

  • History and symptoms

  • Clinical tests and expected signs

  • Referral process

  • Ophthalmology appointment outcomes

  • Prognosis of conditions

  • Case discussions and small group work

Understanding Macular Dystrophy

• Definition:

  • Progressive, often genetic disorder affecting the macula.

  • Non-infectious leading to structural alterations.

Characteristics

• Inherited Condition:

  • Caused by faulty genes (autosomal dominant or recessive)

  • Waste product accumulation

  • Onset: Childhood or adulthood

  • Less common than age-related macular degeneration

Patient History and Symptoms

• Initial Patient Assessment:

  • Change in central vision

  • Questions on onset, health conditions, medications, and family history

• Symptoms:

  • Early stage: Blurry vision, blind spots, low light difficulties

  • Later stage: Severe central vision loss, recognition issues

Clinical Tests

• Routine Eye Examination:

  • Visual acuity (distance and near)

  • Pupil reactions

  • Dilated fundus assessment using imaging

Expected Clinical Signs

• Visual Acuity Testing:

  • Reduced (6/12, 6/60)

  • Fundus imaging reveals signs of macular dystrophies (e.g., Stargardt's dystrophy)

• Autofluorescence Imaging:

  • Indicates central atrophy or degeneration

Referral Process

• Proposal of macular dystrophy in referral (not definitive diagnosis)

• Referral Strategies:

  • Children: Refer to pediatric ophthalmologist

  • Adults: Refer to general ophthalmology

  • Importance of empathetic communication during referrals

Hospital Eye Service (HES) Appointment Outcomes

• Typical examination includes:

  • Visual acuity checks, IOP measurement, imaging tests

• Outcomes linked to genetic counseling and support

Prognosis

• Varies by macular dystrophy type

• Progression ranges from slow to rapid with significant sight loss potential

Case Studies

• Case 1: Stargardt's Dystrophy - 13-year-old with central vision difficulties

• Case 2: Cone Dystrophy - 25-year-old with central blur

• Case 3: Adult Best's Dystrophy - 46-year-old with vision changes

Additional Cases and Research

• Overview of various macular dystrophies (e.g., North Carolina Macular Dystrophy)

• Small group research on different macular conditions

Sorsby and Butterfly Macular Dystrophies

• Features and genetic aspects discussed

Reflection and Future Considerations

• Key takeaways on referral processes, patient management, and future developments in care.