Examination and assessment of the ocular adnexa are necessary to identify various conditions associated with secondary glaucomas as well as possible external effects of glaucoma therapy. The entities described in this section are discussed in greater depth and illustrated elsewhere in the BCSC series, particularly BCSC Sections 6, 7, and 8.
Examples of diseases associated with glaucoma that can also involve the ocular adnexa include tuberous sclerosis (Bourneville syndrome), juvenile xanthogranuloma, and oculodermal melanocytosis (nevus of Ota). In tuberous sclerosis, glaucoma may occur secondary to vitreous hemorrhage, anterior segment neovascularization, or retinal detachment. A typical external sign of tuberous sclerosis is pink to red-brown angiofibromas, which are often found on the face and chin. In juvenile xanthogranuloma, yellow or orange papules or nodules can be present on the eyelids or face. In oculodermal melanocytosis, blue to brown discoloration or darkening occurs on the periocular skin. It can be unilateral or bilateral, and it may be subtle, particularly in persons of African, Asian, or Hispanic ancestry.
The presence of subcutaneous eyelid plexiform neurofibromas is a hallmark of the type 1 variant of neurofibromatosis (NF1, or von Recklinghausen disease). Although glaucoma is generally uncommon in patients with NF1, it occurs in 25%–50% of those who have an eyelid plexiform neurofibroma. In these patients, glaucoma is usually unilateral and ipsilateral to the eyelid neurofibroma.
Several disease processes with ocular adnexal abnormalities are associated with elevated episcleral venous pressure (see Chapter 8). The presence of a facial cutaneous angioma (nevus flammeus, or port-wine stain) can indicate encephalotrigeminal angiomatosis (Sturge-Weber syndrome). The cutaneous hemangiomas of a closely related condition, Klippel-Trénaunay-Weber syndrome, extend over an affected limb and may also involve the face and eyes. Orbital varices, arteriovenous fistulas, and superior vena cava syndrome may also be associated with elevated episcleral venous pressure and secondary glaucoma. Intermittent unilateral proptosis and dilated eyelid veins are key external signs of orbital varices. Carotid-cavernous, dural-cavernous, and other arteriovenous fistulas can produce orbital bruits, restricted ocular motility, proptosis, and pulsating exophthalmos. Superior vena cava syndrome can cause proptosis and facial and eyelid edema, as well as conjunctival chemosis. Thyroid eye disease may also be associated with glaucoma; ocular adnexal features of this disease include exophthalmos, eyelid retraction, and motility disorders.
Long-term use of prostaglandin analogues may result in ocular adnexal abnormalities, including increased periocular pigmentation and hypertrichosis of the eyelashes. Other reported external abnormalities include orbital fat atrophy, enophthalmos, deepening of the upper eyelid sulcus, upper eyelid ptosis, inferior scleral show, and tightening of the eyelids (see Chapter 12).
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.