Hospital for Sick Children's, The: Atlas of Pediatric Ophthalmology & Strabismus, 1st Edition
Ocular Manifestations of Systemic Disease
Alex V. Levin
Thomas W. Wilson
Few pulmonary disorders have ophthalmic manifestations. In addition to sarcoidosis, the focus of this chapter, patients with asthma may have signs of atopy, including allergic or vernal conjunctivitis (Chapter 4: Conjunctiva, Figs. 4.10 and 4.11) or cataract. As the sympathetic chain travels over the apex of the lung before innervating the intraocular and periocular structures, tumors or inflammatory processes at the lung apex can result in ipsilateral Horner syndrome (Chapter 6: Iris and Pupils, Fig. 6.22). Cystic fibrosis is associated with ocular surface abnormalities and, without enzyme replacement, vitamin A deficiency (Chapter 22: Vitamins, Figs. 22.1 and 22.2). Other systemic diseases may have pulmonary and ocular manifestations (e.g., Marfan syndrome, tuberculosis).
Pulmonary disease may result in systemic abnormalities that have ocular signs. Severe hypoxia from any pulmonary disorder can rarely result in retinal vascular change and, occasionally, a small number of intraretinal hemorrhages in the posterior pole. Lastly, although outside the scope of this book, the treatment of pulmonary disorders may have ocular complications such as those seen after lung transplantation with immunomodulators.
Figure 25.1 Sarcoidosis—Rash
Sarcoidosis is a systemic granulomatous disease affecting the skin, lung, thoracic lymph nodes, and eye. Unlike adults, children more often present with peripheral extensor surface rash (shown here), fatigue, and respiratory symptoms. Laboratory data supporting the clinical diagnosis include an elevated serum angiotensin-converting enzyme level, elevated serum calcium level, positive skin biopsy demonstrating a noncaseating granuloma, or chest radiograph with hilar adenopathy. This nonpruritic, nonerythematous rash may easily escape detection by physical examination and history as caretakers may incorrectly attribute the area to “dry skin.” The small papules are initially a yellowish-orange color and subsequently turn a reddish-brown color.
Figure 25.2 Sarcoidosis—Granulomatous Uveitis
Ocular findings of sarcoidosis include anterior uveitis and posterior inflammation, including retinal phlebitis, vitreitis, retinitis, and optic nerve disease. The left photograph illustrates typical granulomatous or “mutton-fat” keratoprecipitates. The large white iris nodule located in the angle in the right image (arrow) represents a Busacca nodule: A local granuloma. Similar but smaller lesions can be found at the pupil border and are named Koeppe nodules. Glaucoma, cataract, and posterior synechia are often associated with sarcoidosis uveitis. As systemic steroids are often used to treat sarcoidosis, even in the absence of uveitis, periodic ophthalmic follow-up is required to detect complications of treatment, which also include glaucoma and cataract.
Figure 25.3 Sarcoidosis
The vitreitis associated with sarcoidosis in children can be aggressive and visually threatening. Vitrectomy may be useful but peripheral traction is difficult to relieve. This patient also suffered a macular hole (not pictured). Epiretinal membranes are also seen (left image). Traction and rhegmatogenous retinal detachment may occur. The right image shows involvement of the optic nerve, which can also lead to visual loss. If the optic nerve involvement is asymmetric, there may be an afferent pupillary defect in the eye that is more affected. Notice the vitreitis overlying the optic nerve.