top of page

Barren land!



● 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⁣




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


𝐂𝐥𝐢𝐧𝐢𝐜𝐚𝐥 𝐅𝐞𝐚𝐭𝐮𝐫𝐞𝐬⁣


● Symptomatic during 1st decade of life⁣

● Nyctalopia/night blindness⁣

● Progresses to peripheral vision in teenage years⁣

● Spares central vision until 50-70 years⁣




● 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⁣




● 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⁣




● At present, no treatment⁣

● Macular edema - 2% dorzolamide⁣



78 views0 comments

Recent Posts

See All


bottom of page