OPT313 Hereditary Macular Disorders

Eyewear Knowledge: Ability to explain complex ocular diseases and their effects on visual function based on anatomical and physiological understanding.
Diagnosis Skills: Competence in diagnosing ocular diseases from presenting signs and symptoms.
Differential Diagnosis: Utilization of investigative strategies for differential diagnosis of ocular disorders.
Management Skills: Capability to safely manage and refer patients and propose treatments.

Overview of Macular Dystrophies
Patient Journey:
- History and Symptoms
- Clinical Tests and Expected Signs
- Referral Process
- Outcomes of Ophthalmology Appointments
- Prognosis
Case Discussions and Group Work

Definition: Genetic disorders causing progressive structural changes in the macula.
Dystrophy: Non-infectious, often genetic deterioration of a body part.

Inherited conditions potentially from faulty genes (autosomal dominant/recessive).
Can result in waste product accumulation; onset may occur in childhood or adulthood.
Less common than age-related macular degeneration.

Initial Assessment: Optometrists inquire about changes in central vision:
- Onset (when started?), unilateral or bilateral involvement, etc.
Symptoms:
- Early Stage: Blurry central vision, blind spots, poor light adaptation, photophobia, distortion.
- Later Stage: Severe central vision loss, inability to see faces or read.

Routine Eye Examination: Focus on visual acuity (distance and near), pupillary reactions, detailed assessments including:
- Dilated fundus assessment, OCT imaging.
Visual Acuity Variability: Ranges from 6/12 to 6/60 or worse, may be unilateral or bilateral.
Fundus Imaging: Some dystrophies show clear signs, while others may be more subtle.

Optometrists cannot definitively diagnose macular dystrophy but can suggest it in referrals.
Management for Children (up to 16 years): Refer to pediatric ophthalmologist, providing all findings and necessary imaging.
Management for Adults (16+ years): Refer to general ophthalmology, emphasizing urgency based on the findings.
Communication with parents should be factual and empathetic, avoiding in-depth diagnoses.

Hospital Eye Service (HES) assessments include visual acuity, pupillary reactions, imaging, and potentially genetic testing.
Review Appointments: Discuss findings, provide support resources, and link genetics for patient/family education.

Dependent on the specific type of macular dystrophy diagnosed; can range from slow to rapid vision loss with severe outcomes expected in time.

Stargardt's Macular Dystrophy: Most common; characterized by yellow specks in imaging, progressive sight loss, and genetic mutations affecting vitamin A processing in the eye.
Cone Dystrophy: Rare vision conditions presenting in early adulthood; photophobia and central blurs typical, with characteristic bulls-eye appearance in fundus imaging.
Bests Dystrophy: Typically diagnosed in the 4th to 5th decades, linked to a BEST1 mutation causing subretinal complications.
Fundus Flavimaculatus: Rare, presents in 4th to 5th decades with risks similar to Stargardt's.

Students are encouraged to research additional macular dystrophies and present findings on clinical signs, diagnostic tests, inheritance patterns, epidemiology, and prognosis.
- Examples of research topics include:
  - Sorsby fundus dystrophy
  - Butterfly macular dystrophy

Continued understanding and study of macular dystrophies is essential in ocular health, along with appropriate referral knowledge for patients.