Complementary Pediatrics by O. Ozdemir

By O. Ozdemir

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Corneal diseases in children The cornea is the anterior transparent, avascular anatomical structure of the human eye. It constitutes 2/3 of the total refractive capacity. There are many congenital and acquired corneal diseases, which may lead to blindness if left untreated. Corneal dystrophies, congenital anomalies, corneal ectasias, metabolic keratopathies and infectious diseases are the main corneal diseases that may be diagnosed in a child. Most of the corneal pathologies disturb the transparency of the organ and should be referred to an ophthalmologist immediately.

Pediatric Ophthalmology / Eye and Disorders 25 The mucopolysaaharidoses (Hurler syndrome, Schie syndrome, Hunter’s syndrome, Sanfippo’s syndrome): The principal ophthalmic manifestations are progressive corneal clouding, pigmentary retinal degeneration, optic atrophy, sometimes papilloedema and in certain cases glaucoma. The gangliosidoses: Defects in lysosomal degradation of gangliosides can result in abnormal accumulation of these lipids. (Infantile, late infantile/Juvenile GM, Tay-Sachs disease) The principal ophthalmic manifestations are macular cherry red spot, tortiosity of retinal vessels, retinal hemorrhages and optic atrophy.

3 Metastatic spread and second primary malignancies Metastatic spread is to regional nodes, lung, brain and bone. Second non-ocular cancers are leading cause of death in patients with the familial form of RB. Most common second tumors are soft tissue sarcoma, osteogenic sarcoma of the skull or the long bones, primitive neuroectodermal brain tumor and cutaneous melanoma. Trilateral RB refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or supraseller region (Murphree, 2006).

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