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Barren land!


𝐂𝐡𝐨𝐫𝐨𝐢𝐝𝐞𝐫𝐞𝐦𝐢𝐚⁣

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● X linked recessive chorioretinal dystrophy⁣

● Diffuse, progressive degeneration of the RPE, photoreceptors and choriocapillaries⁣

● Mutation in CHM gene codes for REP-1 ( Rab escort protein) , Xq21⁣




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𝐏𝐚𝐭𝐡𝐨𝐠𝐞𝐧𝐞𝐬𝐢𝐬⁣

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● Primarily degeneration of RPE cells or choroid or both with secondary degeneration of rods and then cones⁣

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𝐂𝐥𝐢𝐧𝐢𝐜𝐚𝐥 𝐅𝐞𝐚𝐭𝐮𝐫𝐞𝐬⁣

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● Symptomatic during 1st decade of life⁣

● Nyctalopia/night blindness⁣

● Progresses to peripheral vision in teenage years⁣

● Spares central vision until 50-70 years⁣

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𝐅𝐮𝐧𝐝𝐮𝐬⁣

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● Initial changes begin in midperipheral retina⁣

● Clumping/mottling of pigments at RPE⁣

● Well defined areas of hypopigmentation/atrophy with underlying sclera and large choroidal vessels visible⁣

● Post equatorial region just outside vascular arcades⁣

● Advances centripetally⁣

● Associated with PSC, macular edema, CNV⁣

● Female carriers asymptomatic - fundus can be normal to full blown choroideremia⁣

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𝐄𝐥𝐞𝐜𝐭𝐫𝐨𝐫𝐞𝐭𝐢𝐧𝐨𝐠𝐫𝐚𝐦⁣

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● Reduced scotopic before photopic⁣

● Reduction in amplitude of full field ERG and delay in b wave implicit time with minimally⁣

increased dark adaptation thresholds⁣

● Extinguished by midlife⁣

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𝐓𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭⁣

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● At present, no treatment⁣

● Macular edema - 2% dorzolamide⁣

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