Which inherited disorder is characterized by degeneration of photoreceptors and accumulation of retinal pigments?

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Multiple Choice

Which inherited disorder is characterized by degeneration of photoreceptors and accumulation of retinal pigments?

Explanation:
Retinitis pigmentosa is a progressive inherited retinal dystrophy where photoreceptors degenerate over time and the retinal pigment epithelium changes lead to pigment clumping in the retina, producing the classic bone-spicule pigment pattern. Clinically, it often starts with night blindness from rod loss, followed by gradual peripheral vision loss as more photoreceptors die. This combination of photoreceptor degeneration plus pigmentary retinopathy is the hallmark described in RP. Other options don’t fit this pattern: bradyopsia involves slow visual responses to light without the characteristic pigment clumping; cone dystrophy mainly affects central vision and color vision due to cone loss and doesn’t typically show bone-spicule pigmentation; congenital stationary night blindness presents with night blindness from birth but is non-progressive and lacks pigment accumulation in the retina.

Retinitis pigmentosa is a progressive inherited retinal dystrophy where photoreceptors degenerate over time and the retinal pigment epithelium changes lead to pigment clumping in the retina, producing the classic bone-spicule pigment pattern. Clinically, it often starts with night blindness from rod loss, followed by gradual peripheral vision loss as more photoreceptors die. This combination of photoreceptor degeneration plus pigmentary retinopathy is the hallmark described in RP.

Other options don’t fit this pattern: bradyopsia involves slow visual responses to light without the characteristic pigment clumping; cone dystrophy mainly affects central vision and color vision due to cone loss and doesn’t typically show bone-spicule pigmentation; congenital stationary night blindness presents with night blindness from birth but is non-progressive and lacks pigment accumulation in the retina.

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