EXUDATIVE RETINAL DETACHMENT AS THE PRESENTING FEATURE OF TUBEROUS SCLEROSIS COMPLEX Supriya Arora, MS, Gauri Bhushan, MS, DNB, Sriram Thirumalai, MS, Basudeb Ghosh, MD, MNAMS

Purpose: To report a case of exudative retinal detachment as the presenting feature of tuberous sclerosis complex. Methods: A 14-year-old girl presented with loss of vision in the right eye for 1 month. Visual acuity was no perception of light in the right eye and 20/20 in the left eye. Clinical examination, fundus fluorescein angiography, spectral domain optical coherence tomography, and ultrasound B-scan was performed along with complete systemic evaluation. Results: On examination, the right eye had an exudative retinal detachment and the left eye had multiple lesions suggestive of retinal astrocytic hamartomas. Ultrasonography of the right eye revealed a total retinal detachment with subretinal exudates and an acoustically solid mass lesion in the inferonasal quadrant, whereas that of the left eye detected a small mass in inferonasal quadrant. Fundus fluorescein angiography of the left eye revealed staining in the late phase in the lesions. Spectral domain optical coherence tomography taken through the lesion demonstrated an elevated lesion with high reflectivity arising from inner retinal layers and causing backshadowing. On systemic examination, she had multiple skin colored bumps on cheeks and nose and multiple hypomelanotic macules on lower legs. Contrast-enhanced magnetic resonance imaging brain revealed features suggestive of multiple cortical tubers. Contrast-enhanced magnetic resonance imaging orbits showed a T2-hypointense nodule in the right globe medially with intense postcontrast enhancement, and contrast-enhanced magnetic resonance imaging abdomen detected multiple renal cysts suggestive of angiomyolipoma. Conclusion: Retinal astrocytic hamartomas in association with tuberous sclerosis complex is considered to be a relatively stationary lesion that has little potential for aggressive behavior. In rare instances, however, a retinal astrocytic hamartomas can show progressive growth and cause exudative retinal detachment. RETINAL CASES & BRIEF REPORTS 10:121–126, 2016

From the Vitreo Retina services, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

T

uberous sclerosis complex (TSC) is a heredofamilial multisystem disorder characterized by hamartomas of various organs. Hamartomas of the brain (astrocytoma and ependymoma) lead to childhood None of the authors have any financial/conflicting interests to disclose. Reprint requests: Supriya Arora, MS, 50, Sweet Home Society, Sector 14, Rohini, New Delhi 110085, India; e-mail: [email protected]

Fig. 1. Slit-lamp photograph of the right eye showing total RD with retina just behind the lens.

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seizures and mental retardation. The cutaneous manifestations (facial angiofibromas, subungual fibromas, hypomelanotic macules, and shagreen patches) are mainly of diagnostic significance. Other manifestations include cardiac rhabdomyoma, renal angiomyolipoma, pulmonary lymphangiomyomatosis, and retinal astrocytic hamartomas (RAH). Approximately, one third to half of patients with TSC have retinal or optic nerve hamartomas, and the hamartomas occur bilaterally in half the patients.1 Retinal astrocytic hamartoma in association with TSC characteristically shows little change over decades, seldom requiring treatment.2 We hereby report a case in which exudative retinal detachment (RD) was the presenting feature of TSC.

Case Report Fig. 2. Color fundus photograph of the left eye showing a yellowish elevated lesion located IN to the disk and the second lesion that was flat and semitranslucent in superior midperiphery.

Fig. 3. Ultrasound A-scan and B-scan of (A) the right eye revealed a total RD with subretinal exudates and an acoustically solid mass lesion in the IN quadrant showing high internal reflectivity with a focus of calcification (B) spike in the A-scan corresponding to the focus of calcification at low gain in the right eye. C. Left eye detected a small mass in the IN quadrant with a focus of calcification (D) spike in the A-scan corresponding to the focus of calcification at low gain in the left eye.

A 14-year-old girl presented with painless loss of vision in the right eye for 1 month. There was no history of seizures or any other systemic problem. She was studying in sixth grade and doing average in her studies. Family history was not significant. The

RD AS THE PRESENTING FEATURE OF TSC

Fig. 4. Fundus fluorescein angiography of the left eye revealing a network of fine blood vessels in venous phase.

patient denied perception of light in her right eye, and visual acuity was 20/20 in the left eye. On ocular examination, right eye had a total exudative RD (Figure 1) and left eye had multiple lesions. There were 2 lesions of approximately 0.75 disk diameters in size, 1 lesion was yellowish and elevated located inferonasal (IN) to the disk and the second lesion was flat and semitranslucent located in superior midperiphery (Figure 2).

123 Besides this, there were three small semitranslucent lesions, two in the superior periphery and one in the inferior periphery. These lesions were suggestive of RAH. Ultrasound of the right eye (Figure 3A) revealed a total RD with subretinal exudates and an acoustically solid mass lesion in the IN quadrant measuring 6.2 mm in height and showing high internal reflectivity with a focus of calcification (Figure 3B), whereas that of the left eye (Figure 3C) detected a small mass in the IN quadrant with a focus of calcification (Figure 3D). Fundus fluorescein angiography of the left eye revealed a network of fine blood vessels in venous phase with intense staining in the late phase in the lesion IN to the disk and staining of lesion in superior midperiphery (Figure 4). Spectral domain optical coherence tomography taken through the lesion IN to disk demonstrated an elevated lesion with high reflectivity arising from inner retinal layers and causing backshadowing (Figure 5). On dermatologic examination, she had multiple dusky red round topped papules on nose and bilateral cheeks (angiofibromas) (Figure 6A); 3 hypopigmented macules on lower legs suggestive of ash leaf macules (Figure 6B); longitudinal ridges in bilateral index fingers with swelling at the base suggestive of Koenen’s tumors; skin colored 0.5 cm to 4 cm plaques on lumbosacral areas suggestive of collagenomas and dental pitting. On psychiatric evaluation, her intelligence quotient was 90 to 92, suggestive of average intellect. Contrast-enhanced magnetic resonance imaging of the brain revealed features suggestive of multiple cortical tubers and radial glial band in bilateral cerebral hemisphere and multiple calcified subependymal nodules in bilateral lateral ventricles (Figure 7). Contrast-enhanced magnetic resonance imaging orbits showed a T2-hypointense and T1-hyperintense nodule, 6 mm in size in the right globe medially with intense

Fig. 5. Spectral domain optical coherence tomography taken through the lesion IN to disk demonstrated an elevated lesion with high reflectivity arising from inner retinal layers and causing backshadowing.

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Fig. 6. Clinical photograph of (A) face showing multiple dusky red round topped papules on nose and bilateral cheeks (angiofibromas) and (B) lower leg showing hypopigmented macule (ash leaf macule).

postcontrast enhancement (Figure 8). The lesion showed extensive vascularity on color Doppler correlation. Contrastenhanced magnetic resonance imaging of the abdomen detected multiple renal cysts suggestive of angiomyolipoma. Computer-

ized tomography of the chest and echocardiography revealed a normal study. This patient has completed only 1 year of follow-up with us, and status of both the eyes is the same as that of initial presentation.

Fig. 7. Magnetic resonance imaging of the brain showing axial T2/ FLAIR image of calcified subependymal nodule (arrow) and cortical tuber (asterisk).

Fig. 8. Magnetic resonance imaging orbits (axial scan) showing a T2hypointense nodule, 6 mm in size in the right globe medially.

Author

Year 4

Shields et al

Case 1 Case 2 Case 3 Case 4 Shields et al5

Age

Sex

2003

Complication

Tumor Thickness, mm

Other Eye

Retinal exudation, RD, NVG

1996

3 years 3 years 1 year 12 years 7 weeks

Male Male Female Female Male

Jung et al6 Margo et al7

2009 1993

1 month 27 years

Male Female

Atkinson et al8 Case 1 Case 2

1973

Coppeto et al9

1982

21 years

Female

Kroll et al

1981

24 years

Male

Male

Tumor and RD. Differential diagnosis of retinoblastoma Tumor and RD Tumor and exudation, suspected melanoma VH

Enucleation 9 7 10 10 3 9 5

RAH Uncertain RAH RAH Normal Normal Normal 2 flat lesions Normal

15 years 23 years VH, secondary inflammatory changes, NVG Chronic recurrent VH

Treatment

4

Multiple lesions in superficial retina A small flat lesion in superficial retina

RD AS THE PRESENTING FEATURE OF TSC

Table 1. Cases of Symptomatic RAH in Patients of TSC

FNAB confirmed RAH. RD resolved and solid lesion transformed to cystic mass Enucleated Enucleated

VH cleared spontaneously, tumor unchanged in size after 10 years Enucleation Pars plana vitrectomy and biopsy

FNAB, fine-needle aspiration biopsy; NVG, neovascular glaucoma; VH, vitreous hemorrhage.

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However, the patient has been advised 6-monthly follow-up, as treatment in the form of laser photocoagulation or cryotherapy may be indicated in case of documented progression in the left eye and right eye needs to be monitored for neovascularization of iris and neovascular glaucoma.

Discussion Retinal astrocytic hamartoma is classically a benign stable tumor most often found in association with tuberous sclerosis or neurofibromatosis. An acquired retinal astrocytoma is a gelatinous yellow-white tumor that occurs sporadically in patients without systemic tuberous sclerosis or neurofibromatosis. Retinal astrocytic hamartoma have three different morphologic types 1) the more common subtle, flat, round, semitranslucent lesion; 2) the large, elevated, nodular, and calcified mulberry lesion; and 3) mixed type of lesion possessing features of the other two, being calcified in the central portion and semitranslucent in the periphery.1 These lesions are present at the level of nerve fiber layer. It has been stressed that congenital RAH of TSC is generally a fairly stationary lesion that shows little or no tendency to grow.2 This is in contrast to acquired retinal astrocytoma without associated phakomatosis, which is known to be biologically aggressive and grows rapidly often simulating retinoblastoma or amelanotic choroidal melanoma.3 In rare instances, however, RAH of TSC can show progressive growth and cause exudative RD and neovascular glaucoma, which may necessitate enucleation4–6 (Table 1). Vitreous seeding and vitreous hemorrhage can occasionally occur due to the tumor.8,10 Retinal astrocytic hamartoma in TSC mimicking necrotizing retinochoroiditis and requiring enucleation has also been reported.9 In many instances, it has not been possible to differentiate between RAH/acquired retinal astrocytoma and tumors like retinoblastoma and amelanotic choroidal melanoma until cytologic/ histopathologic examination was performed.3,5,7 However, Shields et al4 noted in their patients with a follow-up ranging from 3 years to 12 years that despite aggressive behavior of 1 large tumor, more

peripheral astrocytomas of ipsilateral and contralateral eyes remained stationary. Our case was unique because exudative RD was the presenting feature of TSC in this patient and there was no neovascularization of iris or neovascular glaucoma. There are only a few reported cases4–6 of RAH causing exudative RD, all these eyes had a neovascular glaucoma and necessitated enucleation. This emphasizes the role of an ophthalmologist in diagnosing a serious systemic disorder, which requires a lifelong follow-up. Key words: exudative retinal detachment, retinal astrocytic hamartoma, tuberous sclerosis complex. References 1. Robertson DM. Ophthalmic manifestations of tuberous sclerosis. Ann N Y Acad Sci 1991;615:17–25. 2. Zimmer-Galler IE, Robertson DM. Long-term observation of retinal lesions in tuberous sclerosis. Am J Ophthalmol 1995;119:318–324. 3. Shields CL, Shields JA, Eagle RC Jr, et al. Progressive enlargement of acquired retinal astrocytoma in 2 cases. Ophthalmology 2004;111:363–368. 4. Shields JA, Eagle RC Jr, Shields CL, et al. Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. Trans Am Ophthalmol Soc 2004;102:139–147; discussion 147–148. 5. Shields JA, Shields CL, Ehya H, et al. Atypical retinal astrocytic hamartoma diagnosed by fine-needle biopsy. Ophthalmology 1996;103:949–952. 6. Jung CS, Hubbard GB III, Grossniklaus HE. Giant cell astrocytoma of the retina in a 1-month-old infant. J Pediatr Ophthalmol Strabismus 2009. Epub ahead of print. doi: 10. 3928/01913913-20091019-05. 7. Margo CE, Barletta JP, Staman JA, et al. Giant cell astrocytoma of the retina in tuberous sclerosis. Retina 1993;13:155– 159. 8. Atkinson A, Sanders MD, Wong V. Vitreous haemorrhage in tuberous sclerosis. Report of two cases. Br J Ophthalmol 1973;57:773–779. 9. Coppeto JR, Lubin JR, Albert DM. Astrocytic hamartoma in tuberous sclerosis mimicking necrotizing retinochoroiditis. J Pediatr Ophthalmol Strabismus 1982;19:306–313. 10. De Juan E Jr, Green WR, Gupta PK, Barañano EC. Vitreous seeding by retinal astrocytic hamartoma in a patient with tuberous sclerosis. Retina 1984;4:100–102.

EXUDATIVE RETINAL DETACHMENT AS THE PRESENTING FEATURE OF TUBEROUS SCLEROSIS COMPLEX.

To report a case of exudative retinal detachment as the presenting feature of tuberous sclerosis complex...
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