Submission ID: 010372


Title:
S(c)erious Business!- Neuronal ceroid lipofuscinoses 8 presenting as panuveitis
Category:
Gateway to the health system
Description:
A 9-year-old female child presented with bilateral intermittent redness and diminution of vision for 1 year. She denied any neurological symptoms. Best corrected visual acuity was 20/30 and 20/50 in the right eye and left eye respectively. She had nasal and temporal band shaped keratopathy (A, B), anterior vitreous showed 1+ cells. Fundus revealed vitreous membranes, inferior snowballs, cystoid macular edema and epiretinal membrane (C, D). Morphologically diagnosed as juvenile panuveitis. Whole genome sequencing revealed a likely pathogenic heterozygous carrier variant (c.473A>G on EXON 2) of neuronal ceroid lipofuscinosis 8 (CLN8). Panuveitis can present as an atypical feature of CLN8

S(c)erious Business!- Neuronal ceroid lipofuscinoses 8 presenting as panuveitis
Optos
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