Title: A Study of Ocular Manifestations in Neurocutaneous Syndromes

Authors: Dr Manjit P S, Dr R Gita Ramani, Dr R Unnamalai, Dr T Badri Narayanan

 DOI:  https://dx.doi.org/10.18535/jmscr/v5i3.192

Abstract

INTRODUCTION

Phakomatosis (from the Greek ‘Phakos’ meaning mother spot or mole or freckle) is a group of hereditary disorders characterized by the presence of hamartias and hamartomas involving different organ systems derived from all the three embryonic layers.

The term phakomatosis was coined in 1920 by Van der Hoeve.

References

 1.      Adamsbaum C, Pinton F et al (1996). Accelerated myelination in early sturge weber syndrome MRI – Spect correlations pediatr. Radio. 26(11), 759-62.

2.      Anderson JR, Hydrophthalmia or congenital glaucoma, its cause, treatment and outlook  PP 158-179. London Cambridge University Press 1939.

3.      Boltshauser E, Wilson, Sturge weber syndrome with bilateral intracranial calcification. J of Neuro; neuro surgery psychiatry 39: 429-435, 1976.

4.      Braley AE, Medullated corneal nerves and plexiform neuroma associated with pheochromocytoma Trans Am Ophthalmol soc.  52 : 189-197, 1954.

5.      Brashfield and Das Gupta (1972) Von Reckling hausen’s disease, a clinico pathological study Ann. Surg. 175, 86-104

6.      Callender GR, Thigpen CA. Two neurofibromas in one eye AM J ophthal. 13 : 121-124, 1930.

7.      Cotlier E. Café-au-lait spots of fundus in neurofibromatosis Arch. Ophthal. 95: 1990-1993, 1977.

8.      Destro M, D’ Amico DJ, Gragoudas ES, et al. Retinal manifestations of NF. Diagnosis and management

9.      Eagle RC, Congenital glaucoma with distinctive gonioscopic findings secondary to uveal NF. Presented at Eastern ophthalmologic pathologic society Newyork Oct. 12-13, 1979.

10.  Farris SR, Grove As, Jr. Orbital and eye lid manifestations of NF. A clinical study and literature review. Ophthalmic plast reconstruction surg  12 : 245 – 259, 1966.

11.  Font RL, Ferry AP.  The Phacomatosis, Int ophthalmol clin 12 : 1-50, 1972.

12.  Glover AJ, Powe LK Ocular motor apraxia and neurofibromatosis. Arch ophthalmol 103 : 763, 1985.

13.  Grant WM, Walton DS Distinctive findings in glaucoma due to neurofibromatosis Arch ophthal 79: 127-134, 1968.

14.  Gurland JE, Tenner M, Horn blass, A, et al. Orbital neuro fibromatosis :  Involvement of orbital floor.  Arch Ophthalmol 94 : 1723 – 1725, 1976.

15.  Kaiser – Kupfer MI, Freidlin V, Datiles MB, et al. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with NF type 2 Arch. Oph. 107 : 541-544, 1989.

16.  Kobrin JL, Blodi FC, weingeist TA. Ocular & orbital manifestation of NF.  Surg ophthalmol 24 : 45-51, 1979.

17.  La Piana FG, Sectoral pigmentation in NF.  Ann oph. 9 : 413 – 422, 1977.

18.  Lewis RA, Gerson LP, Axelson KA, et al. Von Reckling hausen NF II.  Incidence of optic gliomata. Ophthalmology 91 : 929-93, 1984.

19.  Lewis RA, Riccardi VM, Von Reckling hausen NF : Incidence of iris hamartomata.  Ophthalmology 88: 348-354, 1981.

20.  Listernick R. Green wald M.J. et al (1989), Optic nerve gliomas in children with neurofibromatosis – type 1 J. Paediatric  114, 788-92.

21.  Macfarlane R, devin AV, weksberg R, et al, Absence of the greater wing of sphenoid in NF type I : congenital or acquired :  Case report.  Neuro surgery 37: 129-133,1995.

22.  Mo a del K, Yannu zzi I LA, Ho Ac, et al Retinal Vascular occlusive disease in  a child with NF.  Arch oph. 112 : 1021-1023, 1994.

23.  Moore RF. Diffuse NF with proptosis.  Br. J. oph. 15: 272-279, 1931

24.  Newman, RM, Cogen MS., Congenital absence of the superior oblique tendon in a patient with neurofibromatosis.  J. pediatr ophthalmol strabismus 34 : 192-194, 1997

25.  Nichols JC, Amato JE, characteristics of Lisch Nodule in patients with NF-I.  J. Paediatri. Ophth Strab. 2003 Sept-Oct; 40(5): 293-6

26.  Otsuka et al. Absence of Lisch nodule in sporadic Neurofibromatosis type-I. Arch of Dermatology Vol. 138 N.6, June 2002.

27.  Ozidirim E, Ozon A et al (1996) Cockayne syndrome review of 25 cases.  Pediatr. Neurol. 15(3), 312-16

28.  Ragge NK. Clinical and genetic patterns of NF I & 2 Brt J Oph 77: 662 – 672, 1993.

29.  Riccardi VM. Von Reckling hausen’s NF. N Engl J med 305 : 1617 – 1627, 1981a.

30.  Senveli E, Karsz.et al (1989) Association of Von Recklinghausen’s Neurofibromatosis and aqueductal stenosis.  NeuroSurgery, 24(1) 99-101.

31.  Shiloh Y and Rotman G (1996) Ataxia telangiectasia and the ATM gene : Linking neuro degeneration, immuno deficiency and cancer to cell cycle check points. J. Clinical Immunology 16(5) 254-60.

32.  Sorensen SA Mulvihill JJ, Neilsen A. Longterm follow up of Von Reckling hausen neurofibromatosis survival and malignant neoplasm N.Engl. J. Med. 314 : 1010-1015, 1986.

33.  Woods C.G. and Taylor AM (1992) Ataxia telangiectasia in the British Isles, the clinical and labroratory features of 70 affected individuals Q.J. Med. 82, 169-79.

Corresponding Author

Dr Manjit P S
Assistant Professor of Ophthalmology, Goverment Medical College Kottayam,

Kottayam, Kerala, India 686008 Phone 9446192845