Hospital for Sick Children's, The: Atlas of Pediatric Ophthalmology & Strabismus, 1st Edition

Ocular Manifestations of Systemic Disease



Alex V. Levin

Thomas W. Wilson

Robert Pashby

The pituitary gland is responsible for regulating hormonal activity within the body. Abnormalities of the pituitary gland may lead to hormonal disruption with secondary effects in the eye. The close proximity of the pituitary to other midline brain structures and the optic chiasm may lead to combined endocrine and ophthalmic findings. An example is septo-optic dysplasia (De Morsier syndrome). Hormone-secreting tumors can also lead to ophthalmic pathology.

Other organs in the endocrine system include the pancreas, adrenal glands, parathyroid glands, and thyroid gland. Disease in any of these structures may have a remote secondary effect on the eye by a variety of mechanisms. Knowledge of these complications will assist the primary care physician and endocrinologists in making appropriate referrals to the ophthalmologist both for screening and in response to ocular signs and symptoms.



Figure 16.1 Diabetes Mellitus— Cataract

Although retinopathy is common in adults, diabetes rarely has ocular complications in the prepubertal years. This photograph shows multiple cortical opacities, similar to the pulverulent cataract (Chapter 7: Lens, Fig. 7.10). Cataract onset may range from infancy to adolescence, and a wide variety of morphology may be seen also, including posterior subcapsular, lamellar, and total cataract (Chapter 7: Lens). Cataract may present before, at, or after the diagnosis of diabetes. Although visual prognosis following surgery is generally good, there is some evidence to suggest that surgery may hasten the onset or progression of diabetic retinopathy.


Figure 16.2 Diabetes Mellitus— Papillopathy

Diabetic papillopathy is an uncommon association with diabetes mellitus in children. Patients typically present with bilateral optic nerve edema and hyperemia with or without significant vision loss. The disc margins can be blurred with engorgement of the retinal arteries and veins. There is typically no optic cup. The cause of the disc changes may be ischemic and similar to anterior ischemic optic neuropathy (AION). Because of the collateral flow in children, permanent damage is not as severe as with AION in adults.


Figure 16.3 Thyroid Eye Disease—Lid Retraction

Thyroid orbitopathy is uncommon in the pediatric population. Patients may present with restricted eye movements, proptosis, lagophthalmos, and, as shown here, lid retraction. This patient shows retraction of the upper and lower lids. The lid abnormalities may in part be due to infiltration of lid muscles as well as proptosis due to enlargement of the extraocular muscles (Fig. 16.5). The abnormal lid position with scleral show may contribute to corneal exposure and desiccation.




Figure 16.4 Thyroid Eye Disease—Strabismus

Extraocular movements can be significantly limited in thyroid orbitopathy. Our youngest patient with active eye muscle disease was 2 years old. The most common muscle involved is the inferior rectus and, therefore, upgaze is often restricted. Children may present with strabismus in the primary position as shown here along with proptosis. This child also has no upgaze. Treatment of the hyperthyroidism may result in improvement of the eye movements. However, if strabismus persists following a period of observation of at least 6 months, strabismus surgery, using adjustable suture technique, may be indicated for large-angle and amblyogenic strabismus. Smaller deviations may be managed with prism glasses.


Figure 16.5 Thyroid Eye Disease

This computed tomography scan illustrates proptosis secondary to extraocular muscle enlargement. The medial and lateral rectus muscles are infiltrated but the muscle tendons are spared, which differentiates this disorder from orbital myositis (Chapter 11: Orbit,Fig. 11.11). This gives the muscles a fusiform appearance. Compression of the optic nerve can cause a compressive optic neuropathy and permanent vision loss. Patients need to be followed routinely with color vision testing and computerized visual fields. Systemic steroids, external radiation, and orbital wall decompression may be necessary.




Figure 16.6 Multiple Endocrine Neoplasia (MEN)

Increased visibility of corneal nerves in children may be due to MEN type 2b. This finding is not visually significant. The syndrome is characterized by medullary thyroid carcinoma, pheochromocytoma, benign tumors of the adrenal medulla, and parathyroid hyperplasia. This autosomal dominant cancer syndrome is caused by mutations in the RET proto-oncogene at 10q11.2. The benign mucosal neuromas are characteristic of MEN 2b but are not seen in MEN type 2a.


Figure 16.7 Pseudohypoparathyroidism

Pseudohypoparathyroidism or Albright hereditary osteodystrophy is caused by an abnormal protein that binds parathyroid hormone to tissues. This results in high levels of circulating parathyroid hormone to which the body is insensitive, resulting in hyperphosphatemia and hypocalcemia. This autosomal dominant disorder has been linked to chromosome 20q13.2. Systemic findings include tetany, seizures, mental retardation, and short stature. Ocular abnormalities include a corneal keratopathy with subsequent vascularization and abnormalities of the lid margin due to meibomian gland dysfunction.