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Quiz: A Lifelong Vision Mystery

Test your understanding of this case with 10 questions.

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Case Information
Review the case details while answering questions

PATIENT DEMOGRAPHICS

54-year-old male

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.

EXAMINATION FINDINGS

Visual Acuity: OD: 6/12, OS: 6/12

Pupils: Equal, reactive, no RAPD

Fundus: Bilateral pale optic discs with temporal pallor more pronounced than nasal. Cup-disc ratio 0.3 bilaterally. Retinal vessels appear normal caliber

INVESTIGATIONS

Right eye fundus showing temporal optic disc pallor characteristic of optic atrophy

Right eye fundus showing temporal optic disc pallor characteristic of optic atrophy

Left eye fundus demonstrating bilateral optic atrophy with similar temporal pallor

Left eye fundus demonstrating bilateral optic atrophy with similar temporal pallor

Fundus Photography: Bilateral pale optic discs with temporal pallor more pronounced than nasal. The optic disc margins are well-defined with cupping consistent with optic atrophy.

Visual Field Test (Humphrey 24-2): Bilateral central and cecocentral scotomas with preserved peripheral fields. Pattern consistent with optic neuropathy.

OCT Optic Nerve: Bilateral thinning of retinal nerve fiber layer, most pronounced in the temporal quadrants. Average RNFL thickness: OD 68μm, OS 65μm (normal >85μm).

Genetic Testing: Heterozygous pathogenic variant in OPA1 gene (c.2713C>T), confirming autosomal dominant optic atrophy.

Family Screening: One of three children carries the same OPA1 mutation but currently has normal vision (age 22). Two children are unaffected.

Question 1 of 10

Which family history feature most strongly favours autosomal dominant inheritance over a mitochondrial cause such as LHON?

Question 2 of 10

Visual acuity is reduced and optic discs are pale bilaterally, yet there is no RAPD. What best explains this?

Question 3 of 10

What most argues against glaucoma as the underlying diagnosis?

Question 4 of 10

Which OCT pattern is most characteristic of this condition?

Question 5 of 10

What is the most likely diagnosis?

Question 6 of 10

The central/cecocentral field defects and temporal disc pallor reflect early loss of which structure?

Question 7 of 10

Why is fluorescein angiography not indicated here, while OCT and genetic testing are?

Question 8 of 10

One of the patient's three children carries the same OPA1 variant but has normal vision at age 22. This best illustrates which phenomenon?

Question 9 of 10

Which new finding should prompt urgent reassessment rather than routine annual follow-up?

Question 10 of 10

At the bedside, before any genetic result, what feature most reliably distinguishes this presentation from LHON?