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Case Study: January 2008
History
A 25-year-old female presents with a painful blind eye.
The eye is enucleated.
The iris is rubeotic with secondary angle closure.
There is an anterior polar cataract.
There is a serous retinal detachment. Closure inspection of the retina shows several lesions, with their bases on the optic fibre layer.
Figure 1 is a low power of one of these retinal lesions.
Figure 2-higher power to show cytology of the retinal lesion.
Figure 3-GFAP immuno.
Questions
1. What is the diagnosis?
2. What are the non-ocular lesions that may be present in this case?
1. Non-calcified retinal astrocytic hamartoma. The older the patient, the more likely calcification is present. This patient had tuberous sclerosis complex.
2. Tuberous sclerosis complex is caused by germline mutations in TSC1 or TSC2.
Some of the major manifestations are as follows:
CNS: Cortical tuber, sub-ependymal nodule, white matter hamartoma, sub-ependymal giant cell astrocytoma.
Skin: Adenoma sebaceum, hypomelanotic macule, shagreen patch, forehead plaque, peri- and subungal fibroma.
Eyes: Retinal astrocytic hamartoma, retinal giant cell astrocytoma, hamartomas of the iris and ciliary epithelium.
Kidney: Angiomyolipoma
Heart: Cardiac rhabdomyoma
GIT: Microhamartomatous rectal polyp and liver hamartoma.
References
http://www.emedicine.com/derm/topic438.htm
Nyboer JH, Robertson DM, Gomez MR. Retinal lesions in tuberous sclerosis. Arch Ophthalmol 1976; 94: 1277-1280
Shields JA, Eagle RC Jr, Shields CL, Marr BP.
Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex.
Arch Ophthalmol. 2005 Jun;123(6):856-63. Review.
Rowley SA, O’Callaghan FJ, Osborne JP
Ophthalmic manifestations of tuberous sclerosis: a population based study.
Br J Ophthalmol. 2001 Apr;85(4):420-3.
Eagle RC Jr, Shields JA, Shields CL, Wood MG.Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.
Arch Ophthalmol. 2000 May;118(5):711-5.
