Retinitis Pigmentosa Associated with Astrocytic Hamartomas of the Optic Disc

Bec, Pierre; Mathis, A.; Adam, P.; Maillard, P; Alberge, Yves

doi:10.1159/000309399

Cited by 15 publications

(8 citation statements)

References 6 publications

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“…However, an old controversy persists concerning the nature of the mulberry-like lesions of the optic disc in patients with RP 5. While several clinical reports have referred to them as astrocytic hamartomas,6–9 histopathological reports have often shown these to be simple optic nerve head drusen (ONHD) 5,10. Puck et al10 described the pathological findings of enucleated eyes from a 22-year-old female with RP who had died in a car accident.…”

Section: Discussionmentioning

confidence: 99%

Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

Kinori

Moroz²,

Rotenstreich³

et al. 2011

OPTH

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Retinal astrocytic hamartomas are benign intraocular tumors classically associated with phacomatoses. Their appearance in isolation is rare. An association between astrocytic hamartomas and retinitis pigmentosa (RP) has been described previously, but controversy still exists regarding the precise nature of these lesions in RP patients. The authors present a case report of a 24-year-old male with RP and multiple bilateral lesions clinically consistent with retinal astrocytic hamartomas. Optical coherence tomography revealed multiple bilateral hyper-reflective intraretinal masses, loss of retinal architecture, intralesional calcifications, and prominent optical posterior shadowing. Comprehensive systemic evaluation was negative for phacomatoses. However, given that a biopsy was not performed, the diagnosis of optic nerve head drusen could not be excluded.

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Section: Discussionmentioning

confidence: 99%

Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

Kinori

Moroz²,

Rotenstreich³

et al. 2011

OPTH

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“…8 Retinal astrocytic hamartomas have rarely been associated with inherited retinal degenerations (e.g. retinitis pigmentosa and Leber's congenital amaurosis), 9 , 10 and its association with Best disease in our case is highly unusual. Only one case of an 11 year old with a combined clinical diagnosis of both Best disease and tuberous sclerosis complex was recently reported.…”

Section: Discussionmentioning

confidence: 63%

Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy

Taylor

Vasconcelos

Yang

2019

American Journal of Ophthalmology Case Reports

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PurposeTo report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma.ObservationsA 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. There were no extraocular signs or symptoms that were diagnostic of a phakamatosis. Genetic testing was positive for a mutation in BEST1, but not TSC1 or TSC2.Conclusions and ImportanceRetinal astrocytic hamartoma is an unusual association with Best macular dystrophy, and this case highlights the balanced approach needed to navigate a potentially complex work-up.

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“…Astrocytic hamartomas of the optic nerve head are associated with certain types of phakomatoses but are also often seen in eyes with retinitis pigmentosa [1,2]. Although optic nerve head drusen are more common in patients with retinitis pigmentosa [3,4], they can be difficult to distinguish from an astrocytic hamartoma as illustrated in this case.…”

Section: Commentmentioning

confidence: 83%

Photographic documentation of the evolution of an optic nerve head lesion in a patient with retinitis pigmentosa

Loukianou

2011

Int Ophthalmol

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PurposeWe report photographically the evolution of a lesion of the left optic nerve head over a 2-year follow-up period in a patient with retinitis pigmentosa. Case reportA 14-year-old boy was referred to the medical retina specialists with a 3-year history of night blindness. Best-corrected visual acuity was 6/18 in both eyes. Fundus examination revealed bone spicule pigmentary changes at the retinal mid-periphery. The retinal vessels were not significantly attenuated and the optic nerve head was not pale. Superficial globules at the margins of both optic discs were observed and regarded as optic nerve head drusen (Fig. 1).A diagnosis of retinitis pigmentosa was made and the patient was followed up yearly. Two years later, a fundus examination revealed evolution of the left optic nerve head lesion with a nodular appearance overlying the optic nerve head vessels (Fig. 2).Autofluorescence imaging of the left optic nerve head showed increased autofluorescence of the nodular mass (Fig. 3).Further investigations were recommended to exclude neurofibromatosis and tuberous sclerosis. CommentIn our case, the lesion in the left optic nerve head was presumed to be a drusen on clinical examination in the first instance, but an examination 2 years later showed a change in the size and appearance with characteristics suggestive of optic nerve head astrocytic hamartoma.Astrocytic hamartomas of the optic nerve head are associated with certain types of phakomatoses but are also often seen in eyes with retinitis pigmentosa [1,2]. Although optic nerve head drusen are more common in patients with retinitis pigmentosa [3,4], they can be difficult to distinguish from an astrocytic hamartoma as illustrated in this case.In the past, when the distinction was not clear, many patients with retinitis pigmentosa were presumed to have optic disc drusen [5]. Subsequent analysis of these patients revealed that some of them had astrocytic hamartomas [6].To our knowledge, this is the first time such an evolution has been documented photographically in a patient with retinitis pigmentosa.

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Retinitis Pigmentosa Associated with Astrocytic Hamartomas of the Optic Disc

Cited by 15 publications

References 6 publications

Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy

Photographic documentation of the evolution of an optic nerve head lesion in a patient with retinitis pigmentosa

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