Journal francais d'ophtalmologie · 2026
Multimodal imaging of retinitis pigmentosa associated with optic disc astrocytic hamartoma in one eye and optic disc drusen in the fellow eye.
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El Matri K, Houmane Y, Falfoul Y, El Mansouri S, Najlaoui O, Hachicha I, Chafter C, El Matri L, Limaiem R
Аннотация
PURPOSE: To report an extremely rare case of retinitis pigmentosa (RP) associated with astrocytic hamartoma (AH) of the optic nerve head (ONH) in one eye and optic disc drusen (ODD) in the fellow eye, assessed with comprehensive multimodal imaging.
METHODS: Observational case report and review of the literature. The patient was assessed with comprehensive multimodal imaging, including fundus autofluorescence, optical coherence tomography (OCT), OCT-Angiography, fluorescein angiography, ocular ultrasound, electroretinogram, visual evoked potentials, and brain magnetic resonance imaging.
RESULTS: A 14-year-old girl presented with progressive visual decline in the right eye (RE). She had been suffering from night blindness and difficulty adapting to darkness since childhood. Visual acuity was 2/10 in the RE and 8/10 in the left eye (LE). Fundus examination revealed characteristic signs of RP in both eyes. Moreover, we noted the presence of a semi-translucent creamy-white lesion with a raspberry appearance centered on the optic disc of the RE, most probably related to an AH of the ONH. In the LE, the optic disc showed blurred margins with multiple calcified nodular lesions consistent with ODD. Fundus autofluorescence and OCT highlighted distinct morphological features of AH and ODD. Systemic assessment ruled out an association with any phacomatosis. The patient was regularly monitored with multimodal imaging, given the potential risk of growth and complications associated with AH and ODD. A two-year follow-up revealed a slight increase in AH size in the RE, and an increase in ODD number in the LE.
CONCLUSION: This is the first reported case of AH and ODD occurring together in RP. A comprehensive multimodal imaging evaluation is necessary to identify and distinguish these two lesions and can be of great help in diagnosis.
METHODS: Observational case report and review of the literature. The patient was assessed with comprehensive multimodal imaging, including fundus autofluorescence, optical coherence tomography (OCT), OCT-Angiography, fluorescein angiography, ocular ultrasound, electroretinogram, visual evoked potentials, and brain magnetic resonance imaging.
RESULTS: A 14-year-old girl presented with progressive visual decline in the right eye (RE). She had been suffering from night blindness and difficulty adapting to darkness since childhood. Visual acuity was 2/10 in the RE and 8/10 in the left eye (LE). Fundus examination revealed characteristic signs of RP in both eyes. Moreover, we noted the presence of a semi-translucent creamy-white lesion with a raspberry appearance centered on the optic disc of the RE, most probably related to an AH of the ONH. In the LE, the optic disc showed blurred margins with multiple calcified nodular lesions consistent with ODD. Fundus autofluorescence and OCT highlighted distinct morphological features of AH and ODD. Systemic assessment ruled out an association with any phacomatosis. The patient was regularly monitored with multimodal imaging, given the potential risk of growth and complications associated with AH and ODD. A two-year follow-up revealed a slight increase in AH size in the RE, and an increase in ODD number in the LE.
CONCLUSION: This is the first reported case of AH and ODD occurring together in RP. A comprehensive multimodal imaging evaluation is necessary to identify and distinguish these two lesions and can be of great help in diagnosis.