Question:
An 8-year-old child presents with gradual loss of vision, especially at night. Fundoscopy shows bone-spicule pigmentation, narrowed retinal vessels, and optic pallor. What is the likely diagnosis?
An 8-year-old child presents with gradual loss of vision, especially at night. Fundoscopy shows bone-spicule pigmentation, narrowed retinal vessels, and optic pallor. What is the likely diagnosis?
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Classic Triad of Retinitis Pigmentosa:
1. Bone-spicule pigmentation in mid-periphery
2. Attenuated (narrowed) retinal vessels
3. Waxy pallor of the optic disc
Key symptom: Early Nyctalopia (Night blindness) progressing to Tunnel vision.
1. Bone-spicule pigmentation in mid-periphery
2. Attenuated (narrowed) retinal vessels
3. Waxy pallor of the optic disc
Key symptom: Early Nyctalopia (Night blindness) progressing to Tunnel vision.
Updated On: Sep 3, 2026
- Retinal vessel proliferation
- Cherry red spot
- Retinitis pigmentosa
- Optic neuritis
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The Correct Option is C
Solution and Explanation
Concept:
Retinitis Pigmentosa (RP) encompasses a genetically heterogeneous group of inherited retinal dystrophies characterized by progressive dysfunction and degeneration of photoreceptor cells (predominantly rods followed secondarily by cones) and the retinal pigment epithelium (RPE).
Explanation:
• Because rod photoreceptors (concentrated in the midperipheral and peripheral retina, mediating scotopic vision) are destroyed first, the earliest and most universal presenting symptom is nyctalopia (night blindness), followed by progressive concentric constriction of visual fields ("tunnel vision").
• Fundoscopic examination reveals the pathognomonic diagnostic triad of Retinitis Pigmentosa:
1. "Bone-spicule" dark pigmentary retinopathy distributed predominantly in the midperipheral retina (due to melanin granule migration following RPE degeneration)
2. Marked attenuation (narrowing/sheathing) of retinal arterioles
3. Waxy pallor of the optic nerve disc
• Electroretinography (ERG) is the most sensitive confirmatory diagnostic test, demonstrating marked reduction or extinction of scotopic a- and b-wave amplitudes.
• RP can occur as an isolated ocular disease or as part of multisystem syndromes (e.g., Usher syndrome with sensorineural deafness, Bardet-Biedl syndrome, Refsum disease, or Kearns-Sayre syndrome).
Final Answer:
The presentation of night blindness and the classic funduscopic triad of bone-spicule deposits, vessel attenuation, and waxy disc pallor is diagnostic of Retinitis Pigmentosa.
Retinitis Pigmentosa (RP) encompasses a genetically heterogeneous group of inherited retinal dystrophies characterized by progressive dysfunction and degeneration of photoreceptor cells (predominantly rods followed secondarily by cones) and the retinal pigment epithelium (RPE).
Explanation:
• Because rod photoreceptors (concentrated in the midperipheral and peripheral retina, mediating scotopic vision) are destroyed first, the earliest and most universal presenting symptom is nyctalopia (night blindness), followed by progressive concentric constriction of visual fields ("tunnel vision").
• Fundoscopic examination reveals the pathognomonic diagnostic triad of Retinitis Pigmentosa:
1. "Bone-spicule" dark pigmentary retinopathy distributed predominantly in the midperipheral retina (due to melanin granule migration following RPE degeneration)
2. Marked attenuation (narrowing/sheathing) of retinal arterioles
3. Waxy pallor of the optic nerve disc
• Electroretinography (ERG) is the most sensitive confirmatory diagnostic test, demonstrating marked reduction or extinction of scotopic a- and b-wave amplitudes.
• RP can occur as an isolated ocular disease or as part of multisystem syndromes (e.g., Usher syndrome with sensorineural deafness, Bardet-Biedl syndrome, Refsum disease, or Kearns-Sayre syndrome).
Final Answer:
The presentation of night blindness and the classic funduscopic triad of bone-spicule deposits, vessel attenuation, and waxy disc pallor is diagnostic of Retinitis Pigmentosa.
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