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?
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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

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