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JMSCR Vol||05||Issue||03||Page 19535-19558||March 2017 JMSCR Vol||05||Issue||03||Page 19535-19558||March 2017 www.jmscr.igmpublication.org Impact Factor 5.84 Index Copernicus Value: 83.27 ISSN (e)-2347-176x ISSN (p) 2455-0450 DOI: https://dx.doi.org/10.18535/jmscr/v5i3.192 A Study of Ocular Manifestations in Neurocutaneous Syndromes Authors Dr Manjit P S1, Dr R Gita Ramani2, Dr R Unnamalai3, Dr T Badri Narayanan4 1Assistant Professor of Ophthalmology, Goverment Medical College Kottayam, Kottayam, Kerala, India 686008 Phone 9446192845 2Former Professor of ophthalmology of Goverment Medical college Madurai 489, K.K. Nagar, Madurai - 625 020. Phone 9443365133 3Former professor of Ophthalmology of Government Medical college Madurai 45 Sundarar st, Alagappan Nagar, Madurai, Tamil Nadu, India, Pin 625003, Phone 9360306424 4Head Medical Services, Dr Agarwal’s Eye Hospital, Arapalayam, Madurai, Tamilnadu, Phone 984235444 INTRODUCTION 1) Ataxia telangiectasia ( Louis – Bar Phakomatosis (from the Greek ‘Phakos’ meaning Syndrome) mother spot or mole or freckle) is a group of 2) Hypomelanosis of Ito (Incontinentia hereditary disorders characterized by the presence pigmenti) of hamartias and hamartomas involving different 3) Xeroderma pigmentosum organ systems derived from all the three 4) Cockayne syndrome embryonic layers. 5) Gorlin syndrome The term phakomatosis was coined in 1920 by 6) Sjogren –Larsson syndrome Van der Hoeve. 7) Proteus syndrome Four classical syndromes included in 8) Menke’s syndrome phakomatosis are 9) Wyburn Mason syndrome 1) Neurofibromatosis - I 10) Klippel – Trenaunay – weber syndrome (Von Recklinghausen disease) & Neurofibromatosis - II LITERATURE REVIEW 2) Tuberous sclerosis GENETICS AND PREVALENCE (Bourneville disease) Neuro fibromatosis I - 3) Angiomatosis retinae Autosomal Dominant ( 17q 11.2) (Von Hippel-Lindau disease) 50% cases new mutations 4) Encephalofacial angiomatosis 1 in 3000 live births (Sturge Weber syndrome) Male: Female - 1:1 Other phakomatoses or neurocutaneous Neurofibromatosis II - syndromes include Autosomal Dominant (22q 12) 1 in 40,000 live births Dr Manjit P S et al JMSCR Volume 05 Issue 03 March Page 19535 JMSCR Vol||05||Issue||03||Page 19535-19558||March 2017 Male : Female - 1:1 DIAGNOSTIC CRITERIA OF THE Tuberous sclerosis - FOUR CLASSICAL SYNDROMES Autosomal dominant (9q 34; 16p 13.3) NEUROFIBROMATOSIS - TYPE – I 1 in 10,000 prevalence Diagnostic criteria for Neuro fibromatosis type I Sturge weber - (from national Institutes of Health Consensus Congenital and sporadic Development Conference (1998). Neurofibro- No chromosome abnormality matosis conference statement. Arch. Neural., 45, Von Hippel Lindau - 575-8) Autosomal Dominant (3p 25-26) Two or more of : Ataxia telangiectasia - 1. Six or more café-au-lait macules Autosomal Recessive (11q 22q 23) measuring – 5 mm in greatest diameter in Hypomelanosis of Ito - prepubertal individuals and – 15 mm in Sporadic; 50% chromosomal problem greatest diameter in post-pubertal (mosaicism, translocation) individuals Xeroderma pigmentosum- 2. Axillary or inguinal freckling Autosomal recessive 3. Two or more dermal neurofibromas Cockayne syndrome 4. A plexiform neurofibroma Autosomal recessive 5. A first – degree relative with NF1 (by the Gorlin syndrome - NIH consensus statement criteria) Autosomal dominant 6. Optic nerve glioma Menke’s syndrome - 7. Two or more Lisch nodules X –linked recessive (Xq 13.3) 8. A distinctive osseous lesion (eg. Sphenoid Sjogren Larsson syndrome - dysplasia or thinning of the long bone Autosomal recessive (17p) cortex) a. with or without pseudoarthrosis PATHOLOGY In general, pathology of phakomatosis include NEUROFIBROMATOSIS TYPE – II a) Hamartias – Non tumourous growths on the Bilateral acoustic neuromas; or a first-degree skin or mucous membrane that arise from cells relative with NF2 and either a unilateral acoustic normally found in the tissue at the involved site. neuroma, neurofibroma, glioma, meningioma, Eg. Congenital vascular malformations of ataxia schwannoma, or early onset lens opacity. The telangiectasia. severity of phenotypes can be defined by age of b) Hamartomas - Localised tumours arising from onset of symptoms (<20 years versus > 20 years), cells normally found at the site of growth eg. Glial number of associated intracranial tumours (<2 tumours of tuberous sclerosis & Lisch nodules tumours versus >2 tumours), and whether spinal (melanocytic hamartomas) of NF-I tumours are present or absent (Evan et al. 1992a; c) True neoplasms – originate from Parry et al. 1994). undifferentiated embryonic cells or differentiated mature cells. TUBEROUS SCLEROSIS Phakomatosis may be differentiated embryolog- Diagnostic criteria for tuberous sclerosis (from ically depending on the germ layer affected. For Osbourne, J.P. and Fryer A.E.(1991). Tuberous eg. Neuro fibromatosis and tuberous sclerosis are sclerosis (epiloia, Bourneville’s disease). In neuro ectodermal dysplasias whereas sturge weber clinical neurology, (ed. M. Swash and J. Oxbury), and Von Hippel Lindau are mesodermal disorders. p. 1256. Churchill Livingstone, Edinburgh) Dr Manjit P S et al JMSCR Volume 05 Issue 03 March Page 19536 JMSCR Vol||05||Issue||03||Page 19535-19558||March 2017 One major or two minor criteria : CLINICAL FEATURES Major Criteria : NEUROFIBROMATOSIS – I 1. Definite shagreen patch OCULAR FEATURES 2. Subungual fibroma I - Disorders of Motility 3. Retinal hamartomas 1. Strabismus (New man & cogen 1997) 4. Adenoma Sebaceum a) Infiltration of extra ocular muscle 5. Bilateral multiple renal angiomyolipomas (EOM) by tumour 6. Subependymal glial nodules on CT/MRI b) compression of EOM by tumour Minor criteria : c) congenital absence of EOM 1. Atypical shagreen patch 2. Ocular Motor Apraxia (Glower and Powe 1985 2. Hypomelanocytic macules – 1 child) 3. Gingival fibromas II Orbit 4. Bilateral polycystic kidneys 1. Orbital neurofibroma 5. Single renal angiomyolipoma Orbital neurofibromas are rare accounting for 0.5 6. Cardiac rhabdomyoma – 2.4% of all orbital tumours. Berney and spahn 7. Histological evidence of a cortical tuber report a case of multiple intraorbital 8. Honeycomb lung on x ray neurofibromas in a 82 year old woman without 9. Infantile spasms type –I NF. But orbital neuro fibromas are also 10. Forehead fibrous plaques seen in association withNF-I 11. Giant cell astrocytoma 2. Orbital bone defect : 12. A first degree relative with tuberous a. Acquired erosion – due to growing NF tumour sclerosis b. congenital defect (Gurland 1936) posterior and superior wall (Savino 1977, Freeman 1987) VON HIPPEL LINDAU DISEASE Cause proptosis with pulsation Sphenoid bone Diagnostic criteria for VHL are : (Macfarlane 1995) i. evidence of more than one Enophthalmos haemangioblastoma in the central nervous III Optic Nerve and Chiasma system or retina. 1. optic Nerve glioma (Lewis 1985) – 15-20 % ii. Two types of tumours commonly found in of NF-I cases VHL in the same patient (e.g. cerebellar Usually Bilateral haemangioblastoma and renal carcinoma ) Non progressive ; or Usually asymptomatic iii. A typical tumour related to VHL and a Proptosis family history of VHL Strabismus Papilloedema STURGE WEBER SYNDROME Optic atrophy Characteristic ‘port-wine’ facial naevus or Subluxation of globe angioma and underlying leptomeningeal angioma Chiasmal Gliomas (Kohira and Yoshimura) / choroidal haemangioma + Endocrine abnormality due to tumour extension Congenital glaucoma + Cutaneous vascularity Optic nerve sheath meningioma with over growth of underlying connective tissue Opticociliary shunt vessels and bone. Face + leptomeniges + eyes involved – trisystem Face + leptomeniges or eye - bi system Dr Manjit P S et al JMSCR Volume 05 Issue 03 March Page 19537 JMSCR Vol||05||Issue||03||Page 19535-19558||March 2017 IV Eye lid cell types – pigmented cells, fibroblast like cells 1. Plexiform neurofibroma (Farris and Grove and mast cells. 1996) commonly involve upper eyelid and temple b) Iris mammillations : can cause proptosis and ptosis. Tiny, regularly spaced villiform lesions, May also 50% chance of developing glaucoma in ipsilateral be a sign of ocular hypertension or intraocular eye malignancy (Anderson sign) c) Congenital ectropion uveae 2. Nodular neurofibroma d) NF of ciliary body and choroid ( callander, 3. Congenital ptosis Freeman 1934) can cause glaucoma e) Thickening of entire uvea V - Conjunctiva f) Choroidal naevi Hamartomas (Font and Ferry 1972) g) choroidal folds Mostly limbal and perilimbal Firm VII - Glaucoma non tender (Grant and Watson 1968) fixed in positions Congenital glaucoma in 50% cases of upper lid covered by normal epithelium plexiform neuro fibromatosis (Anderson 1939) VI Cornea Causes of Glaucoma : a. Neurofibroma (Kobrin 1979) 1. Anterior insertion of iris Central and peripheral 2. Trabecular meshwork covered by a b. Enlarged / thickened corneal nerves – membrane Lignes grises (Braley 1954) 3. Neurofibromatosis tissue replacing trab. Should rule out multiple endocrine neoplasias (Eagle 1979) 4. Neurofibroma involving ciliary body VII Uvea causing thickening, forward rotation. a) Lisch Nodules (after karl Lisch 1907- Study of 42 eyes by Quaranta and Turan showed 1999) – Australian mild anteriorization of iris in 29 (69%). The ophthalmologist ciliary body was invisible in 54.84% or very Term coined by Freidrich.C. Blodi narrow in 21.4%. 3 had bilateral juvenile Projects from iris surface (Lisch 1937) congenital glaucoma. Abundant iris processes Pigmented (brown / yellow / white ) – (Lubset were also noted. 1998) Initially unilateral then bilateral (Lewis 1981) IX - Fundus Multiple (Riccardi
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