Dr.Sherine M D Souza, D07880
Senior-loken syndrome is an autosomal recessive disease characterized by renal-retinal association (ciliopathic disorder) of medullary cystic kidney disease (nephronophthisis) with retinitis pigmentosa or Leber congenital amaurosis due to mutation of genes Nephrocystins. Onset of manifestation can be infantile, juvenile or adolescent
Case report of 12 years old female with diagnosed juvenile nephronophthisis. Complete ophthalmic examination was done:right eye 300 exotropia OU nystagmus of low amplitude moderate frequency variable beating nature with best BCVA of 20/40p in right eye & 20/70 in OS, fundus examination OU revealed pale disc with tapetal reflex with 0.1 cup-disc ratio with arteriolar attenuation with pigmentary changes. Optical coherence tomography in both eyes showed normal foveal contour with normal foveolar outer nuclear layer (ONL) with decreased thickness ONL eccentrically in foveal area with normal FAF. We state association of nephronophthisis with RP
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