|Year : 2019 | Volume
| Issue : 3 | Page : 235-238
Bilateral astrocytic hamartoma in retinitis pigmentosa: A rare association
Gursatinder Singh, Ekta Syal, Divya Tara, Jashandeep Singh
Department of Ophthalmology, Government Medical College and Rajindra Hospital, Patiala, Punjab, India
|Date of Web Publication||31-Dec-2019|
Dr. Ekta Syal
Department of Ophthalmology, Government Medical College and Rajindra Hospital, Patiala - 147 001, Punjab
Source of Support: None, Conflict of Interest: None
Astrocytic hamartomas are benigh tumors that arise in retina and / or optic nerve anterior to lamina cribrosa (optic nerve head). Hamartomas can be solitary or may be associated with phakomatosis. A 15 year-old patient presented with complaint of night blindness since childhood. Ocular examination showed pigmentary retinopathy at mid peripheral retina with superficial globules at optic nerve head margin in both eyes. Multimodal imaging was done to diagnose it as astrocytic hamartoma. Systemic examination revealed profound sensorineural hearing loss. Family history was positive for retinitis pigmentosa. This case report describes the rare association of astrocytic hamartomas with retinitis pigmentosa..
Keywords: Astrocytoma, drusens, retinitis pigmentosa, sensorineural deafness, usher
|How to cite this article:|
Singh G, Syal E, Tara D, Singh J. Bilateral astrocytic hamartoma in retinitis pigmentosa: A rare association. Kerala J Ophthalmol 2019;31:235-8
|How to cite this URL:|
Singh G, Syal E, Tara D, Singh J. Bilateral astrocytic hamartoma in retinitis pigmentosa: A rare association. Kerala J Ophthalmol [serial online] 2019 [cited 2020 Feb 28];31:235-8. Available from: http://www.kjophthal.com/text.asp?2019/31/3/235/274593
| Introduction|| |
Astrocytic hamartomas of the retina or optic nerve head are discrete white-to-yellow masses with gelatinous or semitranslucent appearance on ophthalmoscopy. They range in size from <1 mm to >5 mm and remain stable or display minimal enlargement with time. When stippled with spherical calcium deposits (calcospherites), they have been likened to a mulberry or tapioca. We report the case of bilateral astrocytic hamartoma of the optic nerve head in a patient with retinitis pigmentosa (RP).
| Case Report|| |
A 15-year-old female patient attended the eye outpatient department with the complaint of bilateral progressive diminution of vision, especially at night. The relative gave a history of full-term hospital delivery with hearing loss and inability to speak since childhood. A similar history was present in siblings. However, there was no history of any similar condition in either of their parents.
A detailed examination was done. Best-corrected visual acuity was 6/12 in both eyes. Anterior segment was normal. Pupillary reactions were normal. Fundus examination revealed bone spicule pigmentary changes at the retinal mid periphery [Figure 1]. The retinal vessels were significantly attenuated, but optic nerve heads were not pale. Superficial globules at the margins of both the optic discs, more in the left eye, were observed and were presumed as astrocytic hamartomas [Figure 2]. The macular area in both the eyes showed absent foveal reflex [Figure 2].
|Figure 2: Bilateral peripapillary superficial globules at both disc margins presumed astrocytic hamartomas and absent foveal reflex|
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Visual field analysis could not be done due to the deafness. Optical coherence tomography (OCT) of the optic nerves revealed the features characteristic of astrocytic hamartomas [Figure 3] and cystoid macular edema with a macular thickness of 158 μm in the right eye and 370 μm in the left eye [Figure 4]. B-scan ultrasonography revealed hyperechogenic lesions around both the optic nerves with posterior shadowing [Figure 3].
|Figure 3: Optical coherence tomography of the left eye showing gradual transition from a normal retina to the hyper-reflective intraretinal mass, anterior surface hyper-reflectivity, and loss of normal retinal organization. Note the characteristic moth-eaten pattern that occurs in the tumor. B-mode ultrasound echography of the left eye showing hyperechogenic masses with the posterior shadowing|
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|Figure 4: Optical coherence tomography shows cystoid macular edema with increased macular thickness|
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Upon consultation with an ENT specialist, audiometry reported a response at 90 dB in the both ears, indicating profound hearing loss and inability to speak. Based on the findings, the impression of Usher syndrome (USH) and astrocytic hamartoma with RP was made. Hence, the patient was asked to come with all her siblings on the follow-up visit.
Examination of a 12-year-old sibling with a complaint of night blindness since birth showed visual acuity of 6/6 and fundus changes similar to RP [Figure 5]. Macular edema was present with average macular thicknesses to be 295 μm in both the eyes [Figure 6].
|Figure 6: Optical coherence tomography macula shows cystoid spaces more in the left eye|
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Audiometry findings revealed bilateral profound sensorineural hearing loss. Inability to speak since birth was present.
Another sibling, 11-year-old, also had poor night vision and hearing disability and inability to speak since birth. Unaided visual acuity was 6/9 in both the eyes. Fundus findings were consistent with RP [Figure 7] and average macular thicknesses were to be 200 μm and 218 in the right and left eyes, respectively [Figure 8], Audiometry revealed profound hearing loss.
|Figure 8: Optical coherence tomography macula showing cystoid spaces in both the eyes|
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Based on the examination, the rare association of astrocytic hamartoma with RP was seen and also the familial inheritance of USH.
| Discussion|| |
Astrocytic hamartoma of the optic disc and RP represent a very rare association, first described by Robertson. Although it is common associated with phakomatosis like tuberous sclerosis and neurofibromatosis but it has been rarely seen in eyes with retinitis pigmentosa.
The mulberry-like appearance of astrocytic hamartoma bears similarity with other optic nerve head lesions, namely optic nerve head meningioma, hemangioma, papilledema, combined hamartoma of the retina and retinal pigment epithelium, and most commonly being optic nerve head drusens which has an established association with RP.
These lesions were earlier difficult to distinguish from astrocytic hamartoma. In the previous case reports published,, many cases were considered as optic disc drusen, but later, it was found that it might be due to the lack of high definition fundus photography and lack of OCT, but with the invention of spectral-domain-OCT, B-scan ultrasonography, autofluorescence, and CT head, it has become quite easy to differentiate hamartomas from optic nerve head drusens.
In our case, the optic nerve head lesion in the index patient with RP on fundus photography was suspected to be astrocytic hamartoma which was further confirmed by OCT and B-scan leading to the conclusion that these are indeed glial proliferations which overlie the disc and then involve peripapillary area rather than optic nerve head drusens which are deep into the nerve.
Furthermore, this case also signifies the familial inheritance of USH which is a systemic association of RP. USH was first described by von Graefe in 1858 and is characterized by the association of sensorineural hearing loss and RP. Its heritability was established by Charles Usher, a British ophthalmologist. Furthermore, the absence of disease in parents shows autosomal recessive inheritance pattern.
| Conclusion|| |
To conclude, this case report highlights the unusual presentation of astrocytic hamartomas in a patient of RP (USH). Very few case reports have been reported in the literature regarding this rare association. Hence, such lesions should be looked for while examining cases for RP.
The authors would like to thank the patient for her consent and cooperation.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Shields JJ, Shields CL. Intraocular Tumors: A Text and Atlas. Philadelphia, PA: WB Saunders Co; 1992. p. 421-35.
Zimmer-Galler IE, Robertson DM. Long-term observation of retinal lesions in tuberous sclerosis. Am J Ophthalmol 1995;119:318-24.
Robertson DM. Hamartomas of the optic disk with retinitis pigmentosa. Am J Ophthalmol 1972;74:526-31.
Bec P, Mathis A, Adam P, Maillard P, Alberge Y. Retinitis pigmentosa associated with astrocytic hamartomas of the optic disc. Ophthalmologica 1984;189:135-8.
Grover S, Fishman GA, Brown J Jr. Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa. Ophthalmology 1997;104:295-8.
Novack RL, Foos RY. Drusen of the optic disk in retinitis pigmentosa. Am J Ophthalmol 1987;103:44-7.
Puck A, Tso MO, Fishman GA. Drusen of the optic nerve associated with retinitis pigmentosa. Arch Ophthalmol 1985;103:231-4.
Usher CH. Bowman's lecture: On a few hereditary eye affections, transactions of the ophthalmological societies of the United Kingdom 1935;55:164-245.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]