A Lifelong Vision Mystery
neuro ophthalmology
Patient Demographics
Age: 54 years
Gender: Male
Occupation: School Teacher
History of Presenting Complaint
Long-standing bilateral reduced vision first noted during school screening at age 8. Vision has remained relatively stable at 6/12 in both eyes with very gradual decline over the decades. No acute visual symptoms, pain, or photophobia. Difficulty with detailed work and reading small print.
Past Medical History
- Strong maternal family history of vision problems affecting both males and females
- Mother had similar vision problems from childhood
- Maternal grandfather also affected
- No other significant medical history
Examination Findings
Visual Acuity
OD: 6/12, OS: 6/12
Pupils
Equal, reactive, no RAPD
Extraocular Movements
Full in both eyes
Anterior Segment
Both eyes: Normal cornea, anterior chamber, and lens
Posterior Segment
Bilateral pale optic discs with temporal pallor more pronounced than nasal. Cup-disc ratio 0.3 bilaterally. Retinal vessels appear normal caliber
Intraocular Pressure
OD: 16mmHg, OS: 15mmHg
Which investigations would you choose?
Try to decide before revealing the results. You have 2 attempts.
OCT retinal nerve fibre layer (RNFL)
Fluorescein angiography
Humphrey visual field 24-2
MRI brain and orbits with gadolinium
Genetic testing (OPA1)
0 of 3 investigations selected
Investigations (Locked)
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