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

Ocular Manifestations of Systemic Disease



Alex V. Levin

Thomas W. Wilson

Psychiatric illnesses and ophthalmic disorders can be associated in three different patterns: (a) psychiatric diseases causing ophthalmic disease; (b) ophthalmic diseases causing emotional stress and related mental health issues; and (c) ophthalmic conditions with strong associations with psychiatric diseases.

Trichotillomania (compulsive eyebrow and eyelash pulling), ocular manifestations of Münchhausen syndrome (self-inflected injuries) or Münchhausen syndrome by proxy (factitious disorder by proxy), and functional visual disorders are examples of ocular manifestations of mental health disorders. Functional visual disorders include blinking, vision loss, eyelid pulling, and photophobia. Functional disorders may be signs of significant stress in the home including covert physical, emotional, or sexual abuse. Malingering and functional hysteria may also present with ophthalmic symptoms. Patients with visual loss and a completely normal examination can also have other organic ophthalmic diseases including Stargardt disease, autosomal dominant optic atrophy, optic neuritis, and retinal degenerative disorders. In addition, patients with psychiatric illnesses tend to be less compliant with treatment.

Significant emotional stress can occur with patching therapy, visual impairment, and cosmetically significant strabismus, ptosis, or globe disfigurement. These emotional factors can lead to the potential for mental health symptoms, and it is important for the pediatric ophthalmologist to recognize and minimize these risk factors.

Several ophthalmic disorders have an associated psychiatric illness. Alagille syndrome (Chapter 17: Gastrointestinal) and Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) are examples.



Figure 24.1 Trichotillomania

Trichotillomania is a condition characterized by compulsive eyebrow and/or eyelash pulling, which is secondary to emotional stress. As shown here, slit-lamp examination reveals that the bases of the lashes are still present. The lid margin may also be swollen and erythematous. Often, the lash pulling goes completely unobserved by family members or friends. Other causes of absence of the eyelashes and eyebrows include alopecia universalis, progeria, ichthyosis, and ectodermal dysplasia. Patients with trichotillomania should be referred for a psychologic evaluation. Treatment includes glasses to block the eyelash pulling, gloves, or ophthalmic lubrication ointment to make eyelash and eyebrow pulling more difficult. Identifying potential triggers along with behavior modification is the cornerstone of treatment.


Figure 24.2 Münchhausen Syndrome

Münchhausen syndrome is a psychiatric disorder when patients have self-inflicted bodily injury in order to receive the attention of medical care. Examples of self-inflicted injuries include repeated abscesses secondary to autoinoculation, digit amputation, scars from self-inflicted lacerations or burns, chronic diarrhea, and bleeding abnormalities. These patients will often have a history of emotional and/or physical abuse. The goal of the treatment is to address their underlying emotional and psychiatric disorders. This patient colored her lids red, presumably with cosmetics, to create the appearance of inflammation.


Figure 24.3 Factitious Esotropia

Factitious esotropia is an uncommon presentation for children seeking attention or expressing a physical manifestation of underlying stress. Most children seeking glasses will complain of blurred vision, headaches, double vision, and colored lines/spots. By stimulating the near triad of accommodation, convergence, and miosis, children can maintain the esotropia for short periods of time. The pupils are relatively constricted and the distance vision blurred secondary to activation of accommodation and induced myopia. Both eyes converge symmetrically. Children with factitious esotropia cannot maintain this position long enough to induce amblyopia or medial rectus contracture. Patients should be referred for evaluation and counseling if the behavior persists.