Tuberous Sclerosis 13-month-old boy was referred for a -^"*- strabismus evaluation. Fixation be¬ havior, ocular alignment, and ocular motil¬ ity were normal. Results of ophthalmosco¬ py, however, revealed a white endophytic retinal tumor (Fig 1). Developmental mile¬ stones were normal, and he had had no seizures. Magnetic resonance images dem¬ onstrated periventricular nodules and corti¬ cal and subcortical lesions (Figs 2 and 3). During examination after induction with anesthesia, several smaller translucent reti¬ nal lesions were identified bilaterally (Fig 4). Results of a skin examination revealed multiple hypopigmented macules (Fig 5). Results of echocardiography and renal ul¬ trasonography were normal. COMMENT
Tuberous sclerosis, an autosomaldominant disorder, is variously ex¬ pressed. Vogt's classic triad of mental retardation, seizure disorder, and ade¬ noma sebaceum may appear in only 30% of patients.1 None of these three findings were present in this patient. The presence of subependymal nod¬ ules, cortical tubers, or multiple reti¬ nal astrocytic hamartomas is consid¬ ered sufficient evidence for a definitive diagnosis of tuberous sclerosis.1 Pathognomonic facial angiofibromas (adeno¬ ma
sebaceum) typically develop
3 to 5 years; the
at age
subtle but less specific hypomelanotic macules are of¬ ten present early in infancy.1 In chil¬ dren with tuberous sclerosis, results of neuroimaging studies usually reveal cerebral hamartomas.2 Frequently identified visceral hamartomas include cardiac rhabdomyomas, renal angiomyolipomas, and renal cysts. Retinal astrocytic hamartomas are a frequent finding in tuberous sclerosis, but are rarely the presenting sign.1,3 The hamartomas generally remain static, but over decades some translu¬ cent lesions may calcify.4 Astrocytic hamartomas have been misdiagnosed as retinoblastoma, leading to enucle¬ ation and photocoagulation/ more
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Fig 1.—Fundus photograph of the patient's right eye. The retinal tumor represents an astrocytic hamartoma.
Fig 2.—Magnetic resonance image. A T,weighted parasagittal view shows a subependymal nodule at the right lateral ventricle (arrow). Fig 3. —Magnetic resonance image. A T2weighted axial ¡mage shows multiple cortical and subcortical tubers (arrows).
Fig 4. Fundus photograph of the right eye. A translucent astrocytic hamartoma overlies retinal vessels near the inferotemporal vas¬ cular arcade. —
Fig 5.—The patient's abdomen. Left, A subtle hypomelanotic macule is present to the right of and superior to the umbilicus. Right, the
macule ¡s better visualized with illumination from a Wood's lamp.
Tuberous sclerosis should always be considered in the differential diagnosis of a white retinal tumor in childhood. Robert W. Hered, MD Jacksonville, Fla
Reprint requests to Division of Ophthalmology, Nemours Children's Clinic, PO Box 5720, Jacksonville, FL 32247 (Dr Hered). References 1. Gomez MR. Tuberous sclerosis. In: Gomez MR, ed. Neurocutaneous Diseases. Stoneham, Mass: Butterworth Publishers Inc; 1987:30-52. 2. Roach ES, Williams DP, Laster DW. Magnetic resonance imaging in tuberous sclerosis. Arch Neurol. 1987;44:301-303. 3. Kiribuchi K, Uchida Y, Fukuyama Y, Maruyama H. High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis. Brain Dev. 1986;8:509-517. 4. Robertson DM. Ophthalmic manifestations of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:17\x=req-\ 25. 5. Williams R, Taylor D. Tuberous sclerosis.
Surv Ophthalmol. 1985;30:143-154.
Figure 2.
Figure 1.
Figure 4.
Figure 3.
Figure 5.
Downloaded From: http://archopht.jamanetwork.com/ by a University of Victoria User on 06/04/2015
Tuberous sclerosis, an autosomaldominant disorder, is variously ex¬ pressed. Vogt's classic triad of mental retardation, seizure disorder, and ade¬ noma sebaceum may appear in only 30% of patients.1 None of these three findings were present in this patient. The presence of subependymal nod¬ ules, cortical tubers, or multiple reti¬ nal astrocytic hamartomas is consid¬ ered sufficient evidence for a definitive diagnosis of tuberous sclerosis.1 Pathognomonic facial angiofibromas (adeno¬ ma
sebaceum) typically develop
3 to 5 years; the
at age
subtle but less specific hypomelanotic macules are of¬ ten present early in infancy.1 In chil¬ dren with tuberous sclerosis, results of neuroimaging studies usually reveal cerebral hamartomas.2 Frequently identified visceral hamartomas include cardiac rhabdomyomas, renal angiomyolipomas, and renal cysts. Retinal astrocytic hamartomas are a frequent finding in tuberous sclerosis, but are rarely the presenting sign.1,3 The hamartomas generally remain static, but over decades some translu¬ cent lesions may calcify.4 Astrocytic hamartomas have been misdiagnosed as retinoblastoma, leading to enucle¬ ation and photocoagulation/ more
Downloaded From: http://archopht.jamanetwork.com/ by a University of Victoria User on 06/04/2015
Fig 1.—Fundus photograph of the patient's right eye. The retinal tumor represents an astrocytic hamartoma.
Fig 2.—Magnetic resonance image. A T,weighted parasagittal view shows a subependymal nodule at the right lateral ventricle (arrow). Fig 3. —Magnetic resonance image. A T2weighted axial ¡mage shows multiple cortical and subcortical tubers (arrows).
Fig 4. Fundus photograph of the right eye. A translucent astrocytic hamartoma overlies retinal vessels near the inferotemporal vas¬ cular arcade. —
Fig 5.—The patient's abdomen. Left, A subtle hypomelanotic macule is present to the right of and superior to the umbilicus. Right, the
macule ¡s better visualized with illumination from a Wood's lamp.
Tuberous sclerosis should always be considered in the differential diagnosis of a white retinal tumor in childhood. Robert W. Hered, MD Jacksonville, Fla
Reprint requests to Division of Ophthalmology, Nemours Children's Clinic, PO Box 5720, Jacksonville, FL 32247 (Dr Hered). References 1. Gomez MR. Tuberous sclerosis. In: Gomez MR, ed. Neurocutaneous Diseases. Stoneham, Mass: Butterworth Publishers Inc; 1987:30-52. 2. Roach ES, Williams DP, Laster DW. Magnetic resonance imaging in tuberous sclerosis. Arch Neurol. 1987;44:301-303. 3. Kiribuchi K, Uchida Y, Fukuyama Y, Maruyama H. High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis. Brain Dev. 1986;8:509-517. 4. Robertson DM. Ophthalmic manifestations of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:17\x=req-\ 25. 5. Williams R, Taylor D. Tuberous sclerosis.
Surv Ophthalmol. 1985;30:143-154.
Figure 2.
Figure 1.
Figure 4.
Figure 3.
Figure 5.
Downloaded From: http://archopht.jamanetwork.com/ by a University of Victoria User on 06/04/2015
