PEDIATRIC OPHTHALMOLOGY SESSION

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AUTHORSS PROFILE: DR RENUKA SRINIVASAN: M.B.B.S. (75), Lady Hardinge Medical College, Delhi University; M.S. (81), JIPMER, Madras University. WHO Fellowship in oculoplasty- Wilmer Institute John Hopkins; Commonwealth Fellowship Refractive surgery St Thomas Hospital, London Presently, Director Professor, JIPMER , Pondicherry . E-mail: renuka_oph@yahoo.com

Case 1 A 2 month old infant presented to department of ophthalmology in april 2008 with leucocoria in both eyes. Mother gave history of preterm delivery at 30 weeks of gestation with a birth weight of 1.3 kg. The child was born of a non consanguinous marriage. The neonate was kept in an incubator on oxygen therapy for 40 days. On examination under general anesthesia (EUA), both eyes showed an IOP of 25.9mmHg with Schiotz tonometer, corneal diameter was 13mm in horizontal and 14mm in vertical axis. Both eyes showed symmetrical diffuse corneal edema, shallow anterior chamber with iris touching back

Neurofibromatoses is an autosomal dominant disorder with variable expressivity. Glaucoma may appear upto 50% of the time when neurofibromatoses involve upper eyelid or eye itself. This is a case series of 3 rare cases of secondary buphthalmos occurring in neurofibromatosis, rubella, retinopathy of prematurity.

aised intraocular pressure, during the first three years of life leads to stretching and enlargement of the cornea and the globe causing buphthalmos or ox eye. Secondary buphthalmos comprises glaucoma in childhood with associated abnormalities in which the mechanism of obstruction to outflow is acquired from other events, such as inflammation or neoplasia, rather than a developmental anomaly of the angle. This form of glaucoma is relatively rare compared to primary buphthalmos. It tends to be unilateral or bilateral depending on the underlying cause. Common form of secondary buphthalmos include secondary angle closure glaucoma, intraocular neoplasm, uveitic glaucoma.

Dr. Renuka Srinivasan, Dr. Benjamin Nongrum, Dr. Chikkabasavaia Shivaprasad, Dr. Debasish Mohanty
(Presenting Author: Dr. Benjamin Nongrum)
of cornea. USG-B scan, CT scan and MRI (brain and orbit) showed well demarcated fluid levels in posterior vitreous in both eyes whose tissue echogenicity and attenuation were suggestive of hemorrhagic fluid. Optic nerve was normal and there was no evidence of calcifications or retinal detachment. Major concern in this case was to rule out the remote possibility of retinoblastoma. Topical treatment with dorzolamide eye drops in twice daily dosing was started. IOP 2 weeks after initiating treatment was noted to be 17.3 mmHg with Schiotz tonometer. The child is on periodic follow up every 6 weeks .

Secondary Buphthalmos: A Case Series

Case 2 A full term neonate was referred immediately after birth for a mass in the left upper eyelid . Examination revealed multiple (more than 6) cafe au lait spots, left upper eyelid plexiform neurofibromatosis and left eye buphthalmos. EUA revealed an IOP of 31.8mmHg with Schiotz tonometer and a corneal diameter of 15mm in horizontal and 15.5 mm in vertical axis in the left eye. Right eye showed a corneal diameter of 11mm in both horizontal and vertical axis and an IOP of 14.6mmHg. On MRI brain and orbit, left macrophthalmos and mild hypertrophy of left ridge of sphenoid bone was noted. The number of caf au lait spots increased over a period of time. IOP was not controlled with 0.25% timolol eye drops and oral acetazolamide. Trabeculectomy and trabeculotomy was done at 2nd month. The child was continued on timolol eye drops and IOP was controlled for about 2 months. Case 3 A 3 day old neonate was referred for leucocoria in left eye. Mother gave a history of rashes with sore throat lasting for 3 days during first month

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AIOC 2009 PROCEEDINGS

of pregnancy. The neonate had intrauterine growth retardation, with a birth weight of 1.45 kg, and was treated in neonatal intensive care unit for 5 days. EUA revealed micro cornea measuring 8mm*9.5mm in left eye. Right cornea was clear measuring 12mm*11.5 mm. Lens was clear and fundus examination showed a cup to disc ratio of 0.5. There was no associated pigmentary retinopathy. Gonioscopy of left eye with Koeppe lens showed anterior insertion of the iris into trabeculum, with prominent iris processes in all 4 quadrants. IOP were 32 mmHg and 11 mmHg in right and left eye respectively. A diagnosis of congenital rubella syndrome with buphthalmos was made based on serology showing raised elevated IgM and Ig G antibodies against rubella. Trabeculectomy and trabeculotomy were performed in the right eye for glaucoma. Cataract extraction was done on left eye. EUA performed at 3 months follow-up showed IOPs of13 mmHg in both eyes and after one year were 13 and 14mmHg in right and left eyes respectively.

Discussion

Only 2 cases of buphthalmos associated with retinopathy of prematurity have been reported. It is postulated to be due to forward movement of iris lens diaphragm secondary to vitreous hemorrhage and retinitis proliferans causing secondary angle closure. Our case had diagnostic dilemma as the posterior segment was not visible and the rarity of buphthalmos in retinopathy of prematurity, necessitated a high index of suspicion. The diagnosis of retinoblastoma should be excluded in such a clinical picture. European reports described glaucoma in patients with neurofibromatosis to be also associated with a plexiform neurofibroma of the ipsilateral upper eyelid and ipsilateral facial hypertrophy, termed Franois syndrome. The exact relationship of

1. Melanowski W H , Kobuszovuski M : Two cases of retrolental fibroplasia; contribution to pathogenesis of hydrophthalmia. Bull mem soc Fr Ophthalmol 1955;68:238. 2. Kwitko M L : Secondary glaucoma in infancy and childhood. Can J Ophthalmol. 1969;4:231-46. 3. Mary S. Payne, Joseph M. Nadell, Yves Lacassie and Ann H.Tilton: Congenital Glaucoma and Neurofibromatosis in a Monozygotic Twin: Case Report and Review of the Literature. J Child Neurol 2003;18;504.

References

congenital glaucoma to neurofibromatosis remains uncertain, although several etiologies have proven plausible. Aqueous outflow obstruction leading to increased intraocular pressure was found to be caused by a neurofibroma at the angle of the anterior chamber or neurofibromatous tissue thickening the ciliary body and choroid or complicated by the formation of secondary peripheral anterior synechiae closing the angle and maldevelopment of the angle structures. Number of cafe-au lait spots and the timing at presentation correlates with refractoriness of buphthalmos. In our case, caf-au-lait spots were noted immediately after birth. Glaucoma is refractory to medical as well as surgical mode of treatment. Repeat trabeculectomy and trabeculotomy is considered. Bilateral cataract, microphthalmos and retinopathy are common manifestation of rubella along with systemic dysfunction. The risk for fetal infection varies with the time of maternal infection. Cataract formation in rubella is due to virus entering the lens before development of lens capsule. Glaucoma in rubella results from absorption of the mesoderm of the angle or failure of Schlemms canal to differentiate. Thus, glaucoma is due to maternal infection contracted during late pregnancy. Congenital glaucoma, an infrequent finding of congenital rubella syndrome, poses a diagnostic challenge as the associated microphthalmos may mask corneal enlargement. This case of rubella presented with unusual clinical picture having microphthalmos with cataract in one eye and buphthalmos without cataract in other eye. This rendered management option very difficult for cataract surgery in the microphthalmic eye. Microphthalmic eye is highly hyperopic and adds to the anisometropia in view of the myopia in the fellow eye.

4. Satran L, Letson RD, Seljeskog EL: Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. Am J Dis Child 1980;134:182-3. 5. Vijayalakshmi P, Kakkar G, Samprathi A, Banushree R. Ocular manifestation of congenital rubella syndrome in a developing country. Indian J Ophthalmol 2002;50:307-11. 6. Miller E Cradock-Watson JE, Pollock TM. Consequences of confirmed maternal rubella at successive stages of pregnancy. Lancet 1982;ii:78184.