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Barren land!


๐‚๐ก๐จ๐ซ๐จ๐ข๐๐ž๐ซ๐ž๐ฆ๐ข๐šโฃ

โฃ

โ— X linked recessive chorioretinal dystrophyโฃ

โ— Diffuse, progressive degeneration of the RPE, photoreceptors and choriocapillariesโฃ

โ— Mutation in CHM gene codes for REP-1 ( Rab escort protein) , Xq21โฃ




โฃ

๐๐š๐ญ๐ก๐จ๐ ๐ž๐ง๐ž๐ฌ๐ข๐ฌโฃ

โฃ

โ— Primarily degeneration of RPE cells or choroid or both with secondary degeneration of rods and then conesโฃ

โฃ

๐‚๐ฅ๐ข๐ง๐ข๐œ๐š๐ฅ ๐…๐ž๐š๐ญ๐ฎ๐ซ๐ž๐ฌโฃ

โฃ

โ— Symptomatic during 1st decade of lifeโฃ

โ— Nyctalopia/night blindnessโฃ

โ— Progresses to peripheral vision in teenage yearsโฃ

โ— Spares central vision until 50-70 yearsโฃ

โฃ

๐…๐ฎ๐ง๐๐ฎ๐ฌโฃ

โฃ

โ— Initial changes begin in midperipheral retinaโฃ

โ— Clumping/mottling of pigments at RPEโฃ

โ— Well defined areas of hypopigmentation/atrophy with underlying sclera and large choroidal vessels visibleโฃ

โ— Post equatorial region just outside vascular arcadesโฃ

โ— Advances centripetallyโฃ

โ— Associated with PSC, macular edema, CNVโฃ

โ— Female carriers asymptomatic - fundus can be normal to full blown choroideremiaโฃ

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๐„๐ฅ๐ž๐œ๐ญ๐ซ๐จ๐ซ๐ž๐ญ๐ข๐ง๐จ๐ ๐ซ๐š๐ฆโฃ

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โ— Reduced scotopic before photopicโฃ

โ— Reduction in amplitude of full field ERG and delay in b wave implicit time with minimallyโฃ

increased dark adaptation thresholdsโฃ

โ— Extinguished by midlifeโฃ

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๐“๐ซ๐ž๐š๐ญ๐ฆ๐ž๐ง๐ญโฃ

โฃ

โ— At present, no treatmentโฃ

โ— Macular edema - 2% dorzolamideโฃ

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www.ophthalmobytes.comโฃ

โฃ

Image from Rajan Eye Care Hospital #ophthalmology #ophthal #doctor #health #medical #vision #education #optometry #medicalstudent #optometrist #medicine #eye #ophtho #ophthalmologist #ophthalmo #med #medicaleducation #ophthalmologyresident #ophthalmologyresidency #retina #choroid #chorioretinaldystrophy #choroideremia #retinaldystrophy #dystrophy #nyctalopia #nightblindness

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