Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa – Photographic Documentation over 2 Years of Follow-Up

Abstract

Aim: To report photographically the evolution of an astrocytic hamartoma of the left optic nerve head over a 2-year follow-up in a patient with retinitis pigmentosa. Methods: A 14-year-old boy was seen in the medical retina clinic with a 3-year history of night blindness. Best corrected visual acuity was 6/18 in both eyes. Colour vision was normal in both eyes and confrontation fields showed peripheral constriction. Fundus examination revealed bone spicule pigmentary changes at the retinal mid periphery typical of retinitis pigmentosa and superficial globules at the margins of both optic nerve heads. Electrodiagnostic tests confirmed moderately severe rod cone dystrophy with macular involvement bilaterally. Results: Two years later, the ocular examination was unchanged except for the appearance of the optic nerve head lesion in the left eye. There was an increase in the size of the lesion which was diagnosed as an astrocytic hamartoma. Further investigations were recommended to exclude neurofibromatosis and tuberous sclerosis. Conclusion: Astrocytic hamartomas of the optic nerve head and optic nerve head drusen have both been described in patients with retinitis pigmentosa. They can be a diagnostic dilemma although drusen are more common (10%). To differentiate these two entities it is very important to document any growth during the follow-up period which is suggestive of astrocytic hamartoma rather than optic disc drusen.

Bilateral noncalcified astrocytic hamartomas in retinitis pigmentosa: Multimodal imaging evaluation over 8 years of follow-up

“…Astrocytic hamartomas of the optic disk are usually associated with certain types of phakomatoses such as tuberous sclerosis or neurofibromatosis, nevertheless few cases associated to RP have also been reported. [5][6][7] In some instances, the calcified forms are difficult to distinguish from optic nerve head drusen, 7 but other differential diagnoses should also be mentioned as retinoblastomas, meningiomas, metastatic tumors, optic disk hemangiomas, and combined hamartomas of the retina and RPE. 8 In this case, the lesions appeared as nodular well-defined yellowish-white mass bilaterally, and the absence of an intrinsic vascularization was ascertained by a complete multimodal imaging evaluation.…”

Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation

“…Tuberous sclerosis has an incidence of about 1/10,000 population,[ 4 ] whereas Best's dystrophy has a reported incidence of 1–9/100,000. [ 1 ] The diagnosis of BVMD was established clinically and confirmed by abnormal Arden's ratio on EOG and the presence of macular lesions in the father and grandmother.…”

Lesions of Vision Organ in Patiens With Tuberous Sclerosis (Review of Literature)

“…Гамартому необходимо дифференцировать не только с друзами зрительного нерва, но и с ретинобластомой. Ретино-бластома, в отличие от гамартомы зрительного нерва, характеризуется быстрым ростом и имеет злокачест-венный характер [20,11].…”