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14.6 Retinal Astrocytoma

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symptoms showing a wide variation in severity depending upon the organs involved. Nearly half of the patients with TSC have retinal or optic nerve astrocytoma, a hamartoma arising from the retinal glial cells [92]. Other signicant lesions in TSC include cortical tubers, triangular-shaped hamartomatous lesions, the apex pointing towards the ventricles and located at the greywhite matter junction in frontal and parietal lobes. These may cause seizures in infants, causing repetitive spasms of the head and legs. The

children may have a learning disability (Mental retardation in ~30%). Other major neurological complications include raised intracranial pressure, cranial nerve palsies, and cortical visual defects [93]. More than 90% of patients of TSC have ash-leaf hypo-pigmented patches on their skin, acne-like angiobroma growth on the face (adenoma sebaceum), and periungual bromas (Fig. 14.10a). Major organs such as the heart (rhabdomyoma), lungs (Lymphangiomyomatosis), and kidneys (angiomyolipoma) may have

Fig. 14.10 (A) Adenoma sebaceum in tuberous sclerosis complex: Ash-leaf hypo-pigmented patches on skin, acnelike angiobroma growth on the face (a). Various clinical phenotypes of retinal astrocytomas are recognized; (b) translucent at, slightly elevated, oval salmon patch with gradually merging borders with the normal retina (black arrow); (c) an elevated, grey-white, multinodular lesion with a mulberry-type surface, located near the optic disc margins (blue arrow). The lesions are calcied and detectable on an X-ray. There is a characteristic ‘moth-eaten’

appearance on OCT due to multiple cavities; (d) a nodular lesion located in the centre of a at salmon-coloured at patch (red arrow). (B) A 6/12 months female child was seen with bilateral multifocal translucent retinal astrocytomas (a, b). An antenatal diagnosis of tuberous sclerosis was made based on T2-weighted MRI scans which showed an angiomyolipoma of the kidney (c, red arrow). At 6 months of age, angiomyolipoma of the heart right ventricle (d, red arrow) and multiple subependymal astrocytomas were seen on a CT scan (e, f red arrows)

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Fig. 14.10 (continued)

tubers. X-ray or CT scan of the brain may show calcication. Online Mendelian Inheritance in Man database developed by Johns Hopkins University School MIM *605284/191092. https://

omim.org/entry/

14.6.2 Tuberous Sclerosis Complex—Genetics

TSC is an autosomal dominant disorder with mutations in either TSC1, located on chromosome 9, which encodes for hamartin, or the TSC2 gene, located on chromosome 16, which encodes for tuberin, tumour suppressor proteins. In a large cohort of diagnosed or suspected TSC patients, nearly 74% had pathological mutations in either of the two genes, with a detection rate of 85% in conrmed cases of TSC. The TSC2 mutations were at least 3 X more common than in the TSC1 gene [94].

14.6.3 Retinal Astrocytoma—Clinical Signs

In a population-based study in the Wessex counties of the UK, the prevalence of TSC was 4.9 per

b c

100,000 population. Of the 100 patients of TSC thoroughly examined, 44 had retinal astrocytoma, one-third of which were bilateral [95]. Patients with either multiple lesions or bilateral cases are likely to be inherited disorders versus monofocal lesions, which are likely to be sporadic. Unless the fovea is involved, the vision in the affected remains normal. At least three clinical phenotypes are recognized. The most common phenotype is a single or multiple translucent at, slightly elevated, oval salmon patch with gradually merging borders with the normal retina (Fig.14.10b–d). It may be easily missed unless one is looking for it. If one follows a retinal arteriole from the optic disc to the retinal periphery, sudden haziness of the vessels may lead to the detection of an overlying plaque-like lesion. These are best imaged with blue and green reectance imaging. On fundus autouorescence, these lesions appear hypouorescent. On the structural OCT, these appear uniformly hyperreective lesions in the nerve bre layer [96, 97]. The second phenotype is more easily recognizable and near the optic disc margins. It is an elevated, grey-white, multinodular with a mulberry-type surface. The lesions are calcied and detectable on an X-ray. There is a characteristic ‘moth-eaten’ appearance on OCT due to

14.7 Glioma oftheOptic Pathways andNeurobromatosis

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multiple cavities [98]. The third phenotype, transitional astrocytoma, is much less common and seen as a multinodular lesion in the centre of a at salmon-coloured at patch. Multiple types may present in the same eye [92]. Generally, the retinal astrocytomas remain stable. However, rarely these may start growing and lead to exudative retinal detachment and a painful blind eye. They may show an endophytic or exophytic growth pattern [99]. Because of possible growth, although rare, the astrocytomas should be imaged and regularly followed up for any increase. Only the lesions close to the optic disc were seen to grow in size, and the other associated lesions in the periphery did not show any progression [99].

The histopathology of the retinal astrocytoma shows glial astrocytic proliferation in the retinal nerve bre layer, and the tumour overlies the retinal vessels. The larger lesions may show cystic changes, haemorrhages, and calcication [92]. The enucleated eyeballs of patients blind from the massive growth of the astrocytomas have shown the lesions to be predominantly composed of giant glial astrocytes not different from those seen in the subependymal giant cell astrocytomas of the brain seen in TSC.The immunohistochemical staining of the tumour showed features consistent with a glioneuronal phenotype tumour composed of both the neuronal and glial cells. The tumour showed extensive necrosis varying from 50 to 95% of the tumour size and was lled with blood. Multicentric calcication was seen [99].

14.6.4 Retinal

Astrocytoma—Treatment

The inherited retinal astrocytomas, in general, are fairly stable and, apart from multidisciplinary screening for any other associated organ involvement, do not require any active intervention except for observation and documentation on fundus imaging for any possible growth in the eye. Sightthreatening growing lesions with exudation have been treated with oral inhibitors of the mechanistic target of rapamycin (mTORis), such as Sirolimus and Everolimus. The treatment was well tolerated, the size of the growing tumour was reduced or stabilized, and there was a good improvement in exu-

dation [26, 27]. Previously, oral rapamycin has been successfully used in subependymal giant astrocytic hamartoma [100] and renal angiomyolipoma associated with TSC [101].

An acquired progressive astrocytic hamartoma in an old lady was successfully treated with intravitreal bevacizumab [98]. A ne needle biopsy-proven acquired retinal astrocytoma associated with retinal exudation was successfully treated with photodynamic therapy [102]. Similar cases have also been reported earlier [103].

14.7 Glioma oftheOptic

Pathways andNeurobromatosis

The optic pathway gliomas develop in 15–20% of type 1 neurobromatosis (NF) or peripheral von Recklinghausen disease. Lisch nodules and hypertelorism are other ocular signs in type 1 NF.It is an autosomal dominant disorder resulting from deletion or mutations in any of the nearly 1000 alleles at the 17q11.2 band in the NF1 gene which is family-specic. The systemic phenotype is characterized by the development of cutaneous or subcutaneous neurobromas (76%), Plexiform neurobroma (76%), Cafe-au-lait spots (93%), spinal neurobroma, facial asymmetry; coarse features; macrocephaly, bone cysts; Joint laxity; delayed cognition, and speech difculty and attention decit. For more details, the readers may see MIM # 613675 https://omim.

org/entry, the Online Mendelian Inheritance in

Man database developed by Johns Hopkins University School.

Type 2 neurobromatosis is a distinct adultonset autosomal dominant disorder resulting from mutations in the 22q11.2 band in the NF2 gene. The ocular lesions include cataracts, epiretinal membrane, and retinal hamartomas. The systemic phenotype is characterized by bilateral vestibular schwannomas or acoustic neuromas (90–95%), which develop in all by 30 years. These are benign but highly disabling tumours. Other systemic phenotypes include intracranial meningiomas (45–58%) and other cranial nerve neuromas (24–51%), spinal ependymoma, spinal cord astrocytoma (63–90%), skin peripheral

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nerve tumours, plaques, and peripheral neuropathy (66%) [104]. The presence of bilateral vestibular schwannomas does not require any additional ndings for diagnosing NF 2. However, in unilateral vestibular schwannoma, positive family history or, in its absence, two of the other NF2 lesions—meningiomas, neurobroma, schwannoma, glioma, or cataract—are required to reach a diagnosis. In multiple meningiomas, unilateral vestibular schwannoma and any of the two other signs are required to diagnose NF2 [104].

14.7.1 Retinoblastoma–Clinical Presentations

Retinoblastoma (RB) is a childhood cancer of the primitive retina seen in nearly 1:15,000–20,000 live births. It is invariably fatal if left untreated. The major challenge in RB care is its early detection. In the Western world, more than 80% of RB cases are detected by parents/relatives when they notice a white reex in the pupillary area of the eye (leukocoria). The white reex may be caused by several sight-threatening conditions such as

congenital cataracts, retinopathy of prematurity, Coats’ disease (Fig. 14.11), and the lifethreatening RB. The other presentations of RB may include squinting eyes. There is often a delay of several weeks between noting a white reex and seeking an ophthalmological consultation and referral to a multidisciplinary oncology unit to provide comprehensive care to these babies.

Compared to sporadic unilateral RB cases, familial RB is diagnosed early because of the opportunity to examine the newborn babies within 1–2weeks of the birth. The early tumours are round single, or multiple grey-white translucent and grow rapidly, sometimes within a matter of days (Fig.14.12). The colour becomes more opaque and pinkish as the tumour gets vascularized from the retina, which can be conrmed on FFA. As the lesions progress, the non-cohesive tumour cells may be released into the subretinal space or the vitreous cavity. There may be an accumulation of the subretinal uid [105]. The tumour may show exophytic or endophytic growth. Very rarely, a diffuse inltrative variety may present as a pearly-white iris deposit/hypopyon in the anterior chamber. Advanced cases

abc

def

Fig. 14.11 Coats disease in a 21-year-old male with macroaneurysms and massive exudation in right eye (a). Fluorescein angiography shows hyperuorescence of the macroaneurysms (b) and leakage from the telangiectatic vessels (c). Coats disease in a 22-year-old female in the

left eye with massive exudation (d) and telangiectatic vessels in periphery (e). Fluorescein angiography shows hyperuorescence of the aneurysms (red arrows) with light bulb appearance (f)

14.7 Glioma oftheOptic Pathways andNeurobromatosis

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Fig. 14.12 An 8-year-old female child presented with anterior chamber inammation. Anterior segment photograph showing large white coloured cells (red arrows) in the anterior chamber (a). Ophthalmoscopy revealed dense vitreous cellular inltrates (b) and large, white-coloured vitreous deposits (black arrows) from a rapidly growing retinoblastoma (c). The colour becomes opaquer and more pinkish as the tumour gets vascularized. Vitreous tap

revealed retinoblastoma on histopathology (d). The next day, pearly white deposits (red arrow) appeared in the anterior chamber (e). Reproduced with permission of the publishers from Gupta A and Gupta V (2009) Paediatric uveitis in Gupta A, Gupta V, Herbort C, Khairallah M (eds) Uveitis: Text and Imaging 1st Edn. Jaypee Brothers Medical Publishers (P) Ltd., New Delhi. P. 518

may present with iris neovascularization and neovascular glaucoma. In the late stages, the RB inltrates the optic nerve, choroid, and sclera and extends into the orbit to present as a proptosis or as an orbital fungating mass in highly neglected cases. Until the mid-90 s, the standard of care was using fractionated external beam radiation therapy, which is now reserved only for the eyes that have shown failure with conservative treatment. The introduction of chemo reduction of the tumours using six cycles of intravenous vincristine, etoposide, and carboplatin followed by destructive tumour therapy for each tumour with laser photocoagulation, thermotherapy, brachytherapy, or cryopexy has changed the outlook for a successful outcome. The need to closely follow up the tumour following chemo reduction has led to developing of a new staging classication of the RB (Box 14.3) [106]. More advanced tumours

in unilateral RB (Group D or >) and the eye with the more advanced tumour in bilateral RB are usually enucleated. Group E eyes are generally non-salvageable and should be enucleated. The patient may be given chemo reduction therapy before enucleation to reduce the chances of metastasis. During surgery, the eye should be handled gently to prevent any hematogenous spread of the RB cells. At least 10mm of the optic nerve should be removed with the globe. The eye should be examined by histopathology for any inltration of the optic nerve, choroid or sclera. Before preserving the eye in formalin, fresh tumour tissue should be taken and sent for RB1 gene mutations. The subject of comprehensive screening and management of RB children has been extensively reviewed [107], and we strongly recommend that readers interested in the subject go through it.

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14.7.2 Retinoblastoma—Genetics

Box 14.3 International Classication of Retinoblastoma and Outcome of Treatment

Group Subgroup Clinical features

A Small

B Large

Macular Juxtapapillary SRF

C1 Focal

subretinal seeds

C2 Focal vitreous

seeds

C3 Both

subretinal and vitreous seeds

D1 Diffuse

subretinal seeds

D2 Diffuse

vitreous seeds

D3 Diffuse both

subretinal and vitreous seeds

E Extensive RB >50% of

RB≤3mm in size (base or thickness) outside the fovea

RB>3mm ≤ 3mm to the foveal Centre or ≤ 1.5mm to optic disc or Clear SRF≤3mm from the tumour margin

≤ 3mm from RB

≤ 3mm from the RB

>3mm from the RB

the globe; opaque media due to vitreous seeds; hemorrhage; NVG; Inltration of optic nerve >2mm, sclera, anterior chamber, orbit

Number treated (Success rate)

23 (100%)

96 (93%)

6 (100%)

14 (93%)

1 (0%)

82 (57%)

10 (30%)

17 (6%)

Excluded from the trial and hence no outcome reported

Abbreviations: RB retinoblastoma; SRF

subretinal uid.

Reproduced with permission of the publishers from Shields CL, Mashayekhi A, Au AK, Czyz C, Leahey A, Meadows AT, Shields JA.The International Classication of Retinoblastoma predicts chemoreduction success. Ophthalmology. 2006 Dec;113(12):2276–80. doi: 10.1016/j.ophtha.2006.06.018. Epub 2006 Sep 25. PMID: 16996605.

RB is seen in both familial forms and sporadic forms. In the familial forms, it appears early in infancy, is bilateral, and often multifocal. The inactivation of both alleles of a tumour suppression gene RB1(RB1/p105-Rb) causes it. Both Germline and Somatic Mutation at locus 13q14.2 lead to RB.

bilateral and carry germline (constitutional) mutation inherited from either parent. Familial cases of RB have major systemic associations, namely Trilateral retinoblastoma, Osteogenic sarcoma, Bladder cancer, and Small cell cancer of intestine.

germline mutation. RB develops when there is a somatic mutation in the second allele of the RB1 gene in the primitive retinal tissue. Unilateral RB is seen in nearly 60% of the cases who develop RB from a somatic mutation in both alleles in the primitive retina and are unlikely to transmit the RB in their offspring. In a country-wide cohort, 92% of bilateral RB/familial patients and 10% of the unilateral/non-familial cases in the Netherlands had mutations in the RB1 gene [108]. In another study, nearly 86% of the unilateral RB cases had no germline RB1 mutations, but 12–14% had a germline mutation. Thus, patients with unilateral RB risk transmitting RB to their offspring unless tested by highly sensitive techniques such as allele-specic PCR or nextgeneration sequencing to detect the germline mutation [109]. Unilateral RB patients advised enucleation and detected negative in the blood for the RB1 gene mutation found in their tumour need not be under surveillance in the oncology clinic [107]. A major concern in the heritable RB survivors is the development of second cancers, namely osteosarcomas, soft tissue sarcomas, skin cancer, lung cancer, and various other cancers in different time frames. Radiation therapy and Systemic chemotherapy for RB increase the risk of such cancers by 3.0X and 1.8X, respectively, and necessitates life-long cancer surveillance [110].

inBrief andImplications ofTesting

Nearly 40% of the RB patients are familial/

All cells of the body in these patients carry the

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