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Article Dans Une Revue Ophthalmic Genetics Année : 2019

Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease

Résumé

Background: Pigmented Paravenous Chorioretinal Atrophy (PPCRA) is a rare and predominantly sporadic form of chorioretinal atrophy. Ocular and systemic inflammation has been considered a possible etiology of PPCRA. In this report, we describe an unusual case of PPCRA in a child who was recently diagnosed with chronic granulomatous disease. Case description: A 4-year-old boy was referred for ophthalmic assessment after a seizure. Fundus examination revealed atrophic chorioretinal lesions typical of PPCRA. We had also referred this patient to a gastroenterologist for chronic abdominal pain and diarrhea. The patient was first diagnosed as a case of Crohn’s disease, but in the setting of mesenteric lymphadenopathy, a workup for immune dysfunction was performed. Nitro-blue tetrazolium test (NBT) was negative, suggesting a chronic granulomatous disease, which was finally confirmed by genetic testing. Conclusion: The presentation of PPCRA has been sporadic in the majority of cases. Inflammatory and hereditary origins have been anecdotally cited. Our young patient showed concurrent presentation of inflammatory and hereditary origin of PPCRA. We suggest that a careful investigation of systemic inflammation should be done in children with suggestive extraocular symptoms in the setting of PPCRA.
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Dates et versions

hal-04320795 , version 1 (04-12-2023)

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Vasily Smirnov, Delphine Ley, Brigitte Nelken, Florence Petit, Sabine Defoort. Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease. Ophthalmic Genetics, 2019, Ophthalmic Genetics, 40, ⟨10.1080/13816810.2019.1681009⟩. ⟨hal-04320795⟩

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