A 24-year-old man presents with blurring of his vision and worsening eyesight that is more noticeable at night. He states that his father is registered blind and lost his vision in his late 30s. You examine his fundi and see bony spicule-shaped pigment deposits in the periphery with preservation of the macula.
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This patient has a diagnosis of retinitis pigmentosa. A fundoscopic examination revealing bony spicule-shaped pigment deposits in the periphery with preservation of the macula is highly characteristic of retinitis pigmentosa.
Retinitis pigmentosa is a group of inherited disorders characterised by the following:
- Night blindness (nyctalopia)
- Loss of peripheral vision (tunnel vision)
- Altered colour vision
- Pigmentary retinopathy
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In this case, the patient’s father had also lost his vision, and positive family history is common.
Retinitis pigmentosa can be passed on by all forms of inheritance, but 50% of patients have no known affected relatives.
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There is often also an association between retinitis pigmentosa and rare systemic disorders, including:
- Laurence-Moon-Biedl-Bardet syndrome
- Abetalipoproteinaemia
- Refsum’s disease
- Kearns-Sayre syndrome
- Usher’s disease
- Freidreich’s ataxia
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This patient should be referred for genetic counselling and a specialist ophthalmology assessment.
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