Ординатура / Офтальмология / Английские материалы / Pediatric Opthalmology_Mukherjee_2005

21.Duke Elder S. ; Congenital abnormalities of the inner layer of the optic vesicle in System of Ophthalmology. Vol. III, part 2, pp. 628–633, Henry Kimpton, London 1964.

22.Duke Elder S. and Wybar K.C. ; Ciliary circulation in System of Ophthalmology. Vol. II, pp. 345–346, Henry Kimpton, London 1961.

23.Mann I. ; Developmental anomalies of the eye. Second edition, 1957. Quoted by Duke elder in System of Ophthalmology. Vol. III, part II, pp. 614.

24.Kini. M.D. ; Retinal vascular anomalies in Manual of ocular diagnosis and therapy. Third edition, Edited by Deborah Pavan Langston, pp. 152–153, Little Brown, 1991.

25.Tasman W. ; Retinal telangiectasis (Coats disease) in Pediatric Ophthalmology. Vol. I, Edition two, pp. 612–614, Edited by Harley R.D., W. B. Saunders Company, Philadelphia, 1983.

26.Haller. J. ; Coats disease in Retina. Vol. II, edition 2, pp. 1443–1460, Edited by Ryan S. J., Mosby, St Louis, 1994.

27.Reese A.B. ; Telangiectasia of retina and Coats disease. A.J.O. : 42-1, 1956.

28.Wu Lihteh. ; Coats disease in Current ocular therapy. Fifth edition, pp. 607–608, Edited by Fraunfelder F.H. and Roy H.F., W.B. Saunders Company Philadelphia 2000.

29.Asdourian G. ; Vascular anomalies of the retina in Principle and practice of Ophthalmology. Vol. II, First Indian edition, pp. 1299–1306, Edited by Peyman G.A., Sander D.R., Goldberg M.F., Jay Pee brothers, New Delhi 1987.

30.Kanski J.J. ; Retinal capillary hemangioma in Clinical Ophthalmology. Second edition, pp. 407–405, Butterworth, London 1989.

31.Aaberg T. M. ; Fluorescein angiography in Principle and practice of Ophthalmology. Vol. II, first Indian edition, pp. 910–911, Edited by Peyman G.A., Sanders D.R., Goldberg M.F., Jay Pee brothers, New Delhi 1987.

32.Kumar A, Nainiwal S.K. ; Macular and sub macular surgery in Clinical practice in Ophthalmology. pp. 440–441, Edited by Saxenas, Jay Pee brothers, New Delhi 2003.

33.Harmohina Bagga, Chandra Sekhar G. ; Optical coherence tomography in Clinical practice in Ophthalmology. pp. 122, Edited by Saxena S., Jay Pee Brothers, New Delhi 2003.

34.Saxena S., Nancy M. Holekamp ; Idiopathic macular hole in Modern Ophthalmology. Vol. II, second edition, pp. 781, Edited by Dutta L.C., Jay Pee brothers, New Delhi 2000.

35.Cynthia J. Kendal. ; Ultrasound Principles in Ophthalmic echography. First Indian edition, pp. 1–22, Jay Pee Brothers, New Delhi 1991.

36.Duke Elder S. ; The light sense in System of Ophthalmology. Vol. VII, pp. 384–392, Henry Kimpton, London, 1962.

37.Dark adaptation in Manual of retinal and choroidal dystrophia. First edition, pp. 13–15.

38.Caroline R. Baumal and Elizabeth L. Affel ; The electro-retinogram, the electro-oculogram and dark adaptation in Ophthalmology Secrets. First Indian edition, pp. 30–36, Edited by Vander J.F. and Gault J.A., Jay Pee Brothers, New Delhi, 1998.

39.Sharma P. : Adaptometers in Essentials of Ophthalmology. First edition, pp. 81–82, Modern Publishers, New Delhi, 2000.

40.Duke Elder S. : Electro retinogram in Symptoms of Ophthalmology. Vol. VII, pp. 426–439, Henry Kimpton, London, 1962.

41.Maji A.B., Sharma Y.R., Raj Shekher Y.L. and Nath R. ; Colour vision and colour blindness in Modern Ophthalmology. Vol. II, Second edition, pp. 1035, Edited by Dutta L.C., Jay Pee Brothers, New Delhi, 2000.

42.Sharma P. ; Electro physiological tests in Essentials of Ophthalmology. pp. 78–81, Modern Publishers, New Delhi, 2000.

43.Seal S.K. ; Visual evoked response in GN Seal’s Text book of Ophthalmology. Fifth edition, pp. 14–16, Current Book International, Kolkata, 2002.

44.Zwaan J.T. ; Does the baby see in Decision making in Ophthalmology. pp. 124–125, Edited by Heuvan WAJ and Zwaan J.T., Mosby, St. Louis, 1998.

45.Dutta H. ; VEP studies in Clinical methods in Ophthalmology. First edition, pp. 149–150, JayPee Brothers, New Delhi 1995.

46.Anita Panda ; Visual evoked response in Clinical examination of the eye. First edition, pp. 168, CBS Publishers, New Delhi, 2003.

47.Samant P.M., Hemalini P. Samant and Nabar S.M. ; Diabetic maculopathy in

Ophthalmology - Theory and practical. First edition, pp. 171, Bhalani Publishing House, Mumbai, India, 2004.

48.Ahmed E. ; Diseases of the retina in A text book of ophthalmology. First edition, pp. 281, Oxford University Press, Calcutta, 1993.

49.Fischer D.M. ; Viral diseases and retina in Viral diseases of the eye. Edited by Darrell, R.W; pp. 487-497, Lea and Febiger, Philadelphia 1985.

50.Asdourian G.K. ; Viral retinitis in Manual of clinical problems in ophthalmology. Edited by Gittinger JW and Asdourian G.K. Little Brown and Co., Boston, 1998.

51.Ashton N. ; Larval granuloma of the retina due to toxocara. Br. Jr. Oph. 44 : 129-148, 1960.

52.Shield J.A. ; Ocular toxocariasis A review. Survey ophth. 28 : 361-381, 1984.

53.Kini M.D. ; Diabetic retinopathy in Manual of ocular diagnosis and therapy. Third edition, pp. 155, edited by Deborah Pavan Langston, Little Brown.

54.Tasman W. ; Retinitis pigmentosa in Pediatric Ophthalmology. Vol. I, Second edition, pp. 610-612. Edited by Harley, R.D., W.B. Saunders Company, Philadelphia 1983.

55.Fishman G. ; Variants of retinitis pigmentosa in Principles and practice of Ophthalmology. Vol. III, First Indian edition, edited by Peyman GA, Sander DR and Goldberg MA. Jay Pee Brothers, New Delhi, 1987.

56.Asdourian GK ; Retinitis pigmentosa in Manual of clinical problems in clinical Ophthalmology. pp. 115–117, Edited by Gittinger JW and Asdourian GK. Little Brown, Boston, 1988.

57.Carr, RE, Siegel IM ; Unilateral retinitis pigmentosa. Arch.oph. 90:21,1973.

58.Venkatesh P., Verma L., Tewari H.K. ; Fundus flavimaculatous (Stargardt’s dystrophy) in Clinical practice in Ophthalmology, First edition, pp. 339. Edited by Saxena S., Jay Pee Brothers, New Delhi 2003.

59.Schepens C.L. ; Retinal detachment and allied diseases. WB Saunders Company, Philadelphia, 1983.

60.Namperumalswamy P., Madhvan G., Hirode Dwarkanath D. and Lal S. ; Retinal detachment in Modern Ophthalmology. Vol. II, Second edition, Edited by Dutta L.C.,

pp.650–674, JayPee Brothers, New Delhi, 2000.

61.Johnson R.L. ; Retinal breaks in Retina, vitreous and choroid clinical procedures.

pp.54, Butterworth - Heinemann, Boston, 1995.

62.Dutta L.C. ; Rhegmatogenous retinal detachment in Ophthalmology principle and practice. First edition, pp. 174, Current Books International, Calcutta, 1995.

63.Duke Elder S. and Wyber K.C. ; The vitreous body in System of Ophthalmology. Vol. II, pp. 294-309, Henry Kimpton, London, 1961.

64.Nema H.V., Singh V.P. and Nema N. ; The vitreous in Anatomy of the eye and its adnexa. Second edition, p. 36-38, Jay Pee Brothers, New Delhi, 1991.

65.Pahwa J.M. and Billore O.P. ; Anatomy of the vitreous in Vitreous. First edition, pp. 1- 9, Oxford and IBH Publishing Company, New Delhi, 1985.

66.Pahwa J. M. and Billore O.P. ; Vitreo retinal degeneration in Vitreous. First edition,

pp.75–81. Oxford and IBH Publishing Company, New Delhi.

67.Seal SK. ; Hereditary vitreo retinal degeneration in G.N. Seal’s Text book of Ophthalmology. Fifth edition, pp. 287, Current Books International, Kolkata, 2002.

68.Kanski J. J. ; Vitreo retinal degeneration in Clinical Ophthalmology. Second edition,

pp.381–384. Butterworth international, 1989.

69.Tasman W. ; Disease of the retina and vitreous in Pediatric Ophthalmology. Vol I,

pp.599–602, Edited by Harley R.D. W.B. Sanders company Philadelphia, 1983.

70.Tasman. W. ; Leber’s congenital amaurosis in Pediatric Ophthalmology. Vol. I, edition II, pp. 611, Edited by Harley R.D. WB Saunders Company Philadelphia, 1983.

71.Zwaan J. T. ; Does this baby see in Decision making in Ophthalmology. First indian edition, pp. 124, Edited by Heuven WAJ And Zwaan J.T., 1992.

72.Verma. L., Ravi K. Nainiwal’s and Tewari H.K. ; Optical coherence tomography. DOS times 8: 26-27, 2002.

73.Gupta Sonal, Kader M.A, RamKrishnan R. ; Optical Coherence Tomography: A new Tool for glaucoma diagnosis. Journal of Arvind eye care system. Vol. III, 12 3-9, 2003.

74.Tewari H.K., Wagh V.B., Parul Sony, Venkatesh P., Singh. R. : Macular thickness evaluation using the optical coherence tomography in normal Indian eyes. Ind. Jr. Oph. 52-199-204, 2004.

1.The adult had retinoblastoma in childhood which has under gone spontaneous regression and only a scar is left.

2.On rare occasion the tumour has remained dormant and shown activity later.

C. Retinoblastoma is thought to be a congenital tumour, which may be seen in some cases at birth if looked for specifically.

Contrary to belief, retinoblastoma is a slow progressive neoplasm. So long it is intra ocular it takes months to years to become extra ocular. Once the tumour becomes extra ocular distant metastasis is rapid and fatal.

D. Heredity

Heredity in retinoblastoma.

It is confusing to an average ophthalmologist who is not trained in intricacies of genetics. Some of the salient features of heredity in retinoblastoma are:

1.Retinoblastoma is inherited as autosomal dominant trait3

2.60% of retinoblastomas are non hereditary.

3.40% are hereditary.

4.Incidence of spontaneous mutation is high

5.Both somatic and germinal mutation are met with in retinoblastoma8

6.Patients with germinal mutation are capable of passing the gene to the offspring.

7.Sporadic cases are generally unilateral

8.Bilateral cases are mostly hereditary

9.10% to 20% unilateral cases are hereditary

10.94% of all cases of retinoblastoma are sporadic.

11.Only 6% of all cases of retinoblastoma have family history.

12.To summarise

(a) 20–30% are bilateral and hereditary (b) 10–20% unilateral and hereditary (c) 55–60% unilateral non hereditary.

(d) None are Bilateral and non hereditary.

13. Genetic mutation is due to chromosome 13 in region of 13q 149.

Genetic counselling is assuming more importance in management of retinoblastoma because more children survive to reach reproductive age. If any of the parents is affected with either familial retinoblastoma or bilateral retinoblastoma chances are that their offspring will have 50% chances of inheriting retinoblastoma. Risk of passing the gene to next generation is greatly reduced if the children of parents suffering from familial retinoblastoma are healthy.

Clinical Presentation of retinoblastoma depends upon

Position of the lesion, size of the lesion, its extension in side the globe, duration of the growth, extra ocular extension and family history.

Traditionally retinoblastoma has been divided in to following stages.

A.Stage of quiescence

B.Stage of white reflex

C.Stage of secondary glaucoma

D.Stage of extra ocular extension

E.Distant metastasis

All eyes need not go through the above sequence always. A child may pass in to stage of glaucoma or even extraocular extension without going to stage of white reflex in the pupillary area ( Leucokoria) if the growth is near the disc.

Ellsworth10 has divided retinoblastoma into five groups that spread over clinical Stages A & B for better planning of management of retinoblastoma. Prognosis depends upon the group in which the tumour belongs. Group I has best prognosis.

PRESENTATION

Children with retinoblastoma or suspected to have retinoblastoma seeking medical aid belong to three age groups.

A.Between 20 to 30 months these are generally unilateral and non hereditary

B.Round about 15 months of age these are generally bilateral and hereditary.

C.Within few days of birth, these infants belong to families known to harbour retinoblastoma.

Commonest mode of presentation in first two age groups is white reflex in pupillary area Leucokoria:– unilateral white reflex is by far most common, even in cases of bilateral involvement one eye has whiter reflex unlesss both eyes have equally advanced growth. The white reflex is generally detected by parents. The colour of the reflex is due to reflection of light from the tumour that lacks pink hue of normal retina. The growth is raised from the

surface of retina. Sometimes white reflex is visible only when the child moves the eye from side to side. Second mode of presentation is strabismus which is commonly esotropia this makes detailed fundus examination with indirect ophthalmoscope mandatory.

The child may be brought with red and watery eyes, the parents may correlate redness to some trivial, sometimes, imaginary injury. By the time the child develops photophobia the eye has passed in to stage of secondary glaucoma.

Proptosis is a late presentation and means extra ocular extension.

EXAMINATION OF THE EYE INCLUDES

A.Flash light examination

1.For conjunctival and ciliary congestion

2.Corneal size

3.Anterior chamber for pseudohypopyon

4.Pupil for size and colour leucocoria

5.Iris

(a) Heterochromia (b) Nodule

(c) Neovascularisation

6.Lens. The lens is examined for its transparency and retro lenticular mass which is mistaken as cataract. Lenticular opacities are late to develop in retinoblastoma.

B.Slit lamp examination. To confirm findings of torch light examination the eye should be examined under magnification preferably with a slit lamp. In very small children it is better done under anaesthesia either with a hand held slit lamp or with an operating microscope.

C.Indirect ophthalmoscopy, both eyes should be examined with complete mydriasis and sclera indentation under general anaesthesia.

D.Recording of intra ocular tension and measurement of corneal diameter should also be performed under general anaesthesia, Anesthetics that cause rise of IOP should be avoided.

E.B.scan ultrasonography. If the child does not co-operate it should also be done under general anaesthesia. Retinoblastoma appears as a solid mass arising from retina with high reflectivity.

F.Other Investigation

1.X-ray orbit for evidence of intra ocular calcification.

2.CT for intra cranial extension, condition of optic canal, presence of Trilateral Retinoblastoma, intraocular calcification.

3.M.R.I11. This confirms intraocular calcification, shows extra ocular extension including optic nerve infiltration, MRI of brain show presence of Pinealoblastoma (trilateral retinoblastoma)

4.Fine needle biopsy

G.Systemic examination for

1.Distant metastasis,

2.Primaries that may produce proptosis mimicking retinoblastoma

H.Fundus examination of parents grand parents, in case of bilateral tumours.

DIFFERENTIAL DIAGNOSIS OF RETINOBLASTOMA

Differential diagnosis of retinoblastoma comprise of two groups of disorders

A.The first group comprises of the most important causes that present with white reflex in the pupillary area. Infact it is best to suspect each case of white reflex in the pupillary area specially if it is retrolental to be retinoblastoma unless proved otherwise. It should be remembered that retinoblastoma is a life threatening condition.

B.Second group consists of those diverse conditions that produce proptosis with or without white reflex in the pupillary area.

CONDITIONS THAT PRODUCE WHITE REFLEX CAN BE GROUPED INTO

A.Lenticular

B.Retrolenticular

C.Pre lenticular

Lenticular causes of white reflex comprise of congenital cataract, developmental cataract and traumatic cataract.

Retrolenticular causes of white reflex comprise many diverse conditions that give white reflex in pupillary area traditionally they were grouped as Glioma and Pseudoglioma. This is due to early misconception that retinoblastoma was a glioma. It is more logical to group them as

Retinoblastoma and non-retinoblastoma

The non retinoblastomic causes could be congenital anomalies, iatrogenic (toxic ), inflammatory and vascular.

NON RETINOBLASTOMIC RETROLENTAL CAUSES OF WHITE REFLEX IN PUPILLARY AREA4,12,13,14

A.Congenital

1.Persistent hyperplastic primary vitreous

2.Retinal dysplasia

3.Congenital retinoschisis

4.Incontenentia pigmenti

5.Large coloboma of choroid

6.Congenital retinal fold

7.Large opaque nerve fibre

B.Iatrogenic

Retinopathy of prematurity

C.Vascular

1.Persistent hyperplastic primary vitreous

2.Retinopathy of prematurity

3.Coat’s diseases

4.VonHippel’s disease

5.Leber’s miliary aneurysm

D.Inflammatory

1.Ocular toxocariasis

2.Metastatic endophthalmitis

3.Retino choroiditis

4.Metastatic retinitis

E.Newgrowths

1.Meduloepithelioma

2.Leukaemia

3.Choriodal hemangioma

F.Miscellaneous

1.Norrie’s disease

2.Familial exudative vitreo retinopathy

INFLAMMATORY CAUSES OF WHITE REFLEX IN PUPILLARY AREA CAN BE

A.Prelenticular exudative deposits in front of the lens in the form of membrane obscuring lens i.e. occlusiopupillae.

B.Complicated cataract.

C.It can produce retrolental pathology mimicking retinoblastoma. These causes are

1.Posterior cyclitic membrane

2.Parsplanitis

3.Metastatic endophthalmitis

4.Parasitic endophthalmitis.

D.The vascular causes of white reflex that also produce retinal mass are

1.Coat’s disease

2.Leber’s miliary aneurysm

3.Angiometosis retinae

E.Proptosis itself is a late mode of presentation. It is produced only when retinoblastoma breaks the scleral barrier. Once the growth is extra ocular, its spread inside the orbit and distant metastasis is fast.

Other cause of proptosis that simulate retinoblastoma are -

1.Secondries (a) Leukaemia

(b) Neuroblastoma

2.Inflammatory

(a) Orbital cellulitis

(b) Cavernous sinus thrombosis (c) Sub periostial abscess

(d) Parasitic cyst (e) Panophthalmitis

3.Primary tumour—Rhadbomyosarcoma

PATHOGENESIS OF RETINOBLASTOMA

Pathogenesis of retinoblastoma is poorly understood. It may have hereditary predisposition, however, majority of them are sporadic. Advanced parental age and history of cancer in excess of demographically expectation in the family and 13q deletion syndrome are some other predisposing factors9.

Primitive precursor of photoreceptors which normally produce rods and cones under go anaplastic change to give rise to retinoblastoma cells in the outer layer of retina.

Endophytic tumours originate in inner nuclear layer while exophytic tumours originate in external nuclear layer.

The retinoblastoma cells are semi columnar cells with large dense nuclei and scanty cytoplasm. The retinoblastoma cells have a tendency to arrange themselves in the form of rosettes, fleuerettes and pseudorosettes. There are two types of rosettes i.e. FlexnerWintersteiner, and Homer-Wright rosettes.

A. Flexner-Wintersteiner rosettes7 are typical of retinoblastoma. The cells are arranged in circular fashion leaving a central empty lumen, that is lined by a clear membrane over which the cells are arranged with large hyperchromic nuclei away from the lumen figure. Multiple rosettes are seen to be scattered all over the field. The membrane over which the cells are arranged is similar to the external limiting membrane of retina. The membrane may be penetrated by blunt processes that are similar to photoreceptors. The lumen contains acid mucopoly saccharides.