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Cone-Rod Dystrophy complicated with cystoid macular edema

An eight years old girl has cone-rod dystrophy complains of reduced central vision. Her BCVA at the presentation was 20/50. Fundus exam shows golden sheen of the macula atrophic changes.


Optical coherence tomography 


OCT scan shows diffuse ellipsoid zone disruption and RPE atrophy, inducing increased reflectivity of the choroid. Although the fovea appears with normal contours, the boundaries between retinal layers are not clear; there are cystic changes with a mild increase in retinal thickness.


OCT cross-section of a cone-rod dystrophy complicated with cystoid macular edema
OCT cross-section of a cone-rod dystrophy complicated with cystoid macular edema



Management 


The patient managed with Oral acetazolamide 125 mg b.id. and after one month, the cystic changes have resolved with an improved vision to 20/40.

This patient has a BCVA of 20/50 due to cone-rod dystrophy and cystoid macular edema, which can be presented as an autosomal recessive, dominant, and X-linked disease. They usually suffer from dyschromatopsia and photophobia, in late-stage cone-rod dystrophy can cause legal blindness.

The patient managed with Oral acetazolamide 125 mg b.id. that facilitated fluid accumulated in intraretinal cysts to be drained via RPE cells and within one month and improved vision to 20/40.

OCT cross-section of a cone-rod dystrophy showing resolved cystoid macular edema post treatment
OCT cross-section of a cone-rod dystrophy showing resolved cystoid macular edema post treatment


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