Q: I just saw a 14-month-old baby who has no reflex tears. Im very concerned about the state of the cornea, not to mention ocular morbidity down the road. What should my next step be?

A: Treat the signs of dry eye, but Id be very concerned about the potential for systemic problems, says Sandra Block, O.D., M.Ed., of the Illinois College of Optometry. There are very few reasons for a total lack of tear development; its an autonomic nervous system problem. This is bigger than just the eye problem. There are so few conditions that cause this that you have to treat it as severe. This needs diagnosis as soon as possible.

What is Riley-Day Syndrome? Riley-Day syndrome (familial dysautonomia) is an autosomal-recessive genetic disorder seen most frequently in the Ashkenazi Jewish population.1 Here, the incidence of this disorder is one in 3,700, and it is even rarer in the general population. Blood tests are available to check for the carrier gene. Symptoms include prolonged episodes of vomiting, lack of response to painful stimuli, an unusually smooth tongue surface, dry eye, seizures, frequent holding of breath, fevers and high blood pressure.1 Clinicians or parents may also notice that the young patient does not excrete tears when crying.1,6 Definite diagnosis requires five factors: absence of tears, a lack of lingual fungiform papillae, depressed patellar reflexes, lack of an axon flare following intradermal histamine and documentation of paternal and maternal Ashkenazi heritage.6 Treatment includes management of aspiration pneumonia, administration of anticonvulsant therapy (if needed), instillation of artificial tears and other dry eye therapies, and the use of anti-emetics to control vomiting. And, with advances in understanding of the genetic malfunction, survival rates are improving. Currently, a patient with Riley-Day syndrome has a 50% chance of living to the age of 30, though most die suddenly of pulmonary failure or renal failure before this age.1,2 But, current research involving the use of kinetin suggests that the condition can be treated at the molecular level.6

The childs lack of tears may result from Riley-Day syndrome, says Dr. Block. If you see one case of Riley-Day syndrome in your lifetime, thats a lot, Dr. Block says. Usually, however, the diagnosis is first made by the pediatrician and then referred to you because dry eye is a part of the condition. The pediatrician may have recognized signal complications, such as arrhythmia and postural hypotension, and sent the patient for further treatment.

Patients who have this autonomic nervous system condition do not feel most types of pain, so an infant may not express the usual signals of ocular pain, such as rubbing the eyes.1

Because Riley-Day syndrome affects so many bodily processes, aim to control ocular symptoms and refer the patient out quickly.  The patients visual outlook is not good; but, then again, as long as ocular health is controlled, its not a primary concern. Treatment is mainly supportive, with a goal of minimizing corneal morbidity.2

With a case like this, your goal is to get the child to the right resourcespediatric neurology, for example, adds Dr. Block.

Other rare syndromes that may be causing the infants lack of tears include Allgrove syndrome and Schinzel-Giedion syndrome. Allgrove syndrome (triple A syndrome) includes achalasia, alacrimia and andrenal hypoplasia, and it may present with bilateral (or occasionally unilateral) lack of tears.3 Schinzel-Giedion syndrome is another autosomal-recessive disorder, but the linked gene has not yet been identified.4 It is characterized by midface retraction, hypertrichosis, multiple skeletal anomalies, cardiac and renal malformations and clubfeet.5 The life expectancy for infants with this syndrome is a few years at best.5

Counseling would also be a responsibility of the doctor who makes the formal diagnosisand in this case, that is not the optometrist. Genetic counseling is not outside the scope of optometry, says Dr. Block, But in this case, genetic counseling is more than just discussing the genetic trigger.

 

1. National Institutes of Health. Medical Encyclopedia: Riley-Day syndrome. Available at: www.nlm.nih.gov/medlineplus/ency/article/001387.htm (Accessed September 17, 2008).

2. Axelrod FB. Familial dysautonomia. Muscle Nerve 2004 Mar;29(3):352-63.

3. Kasar PA, Khadilkar VV, Tibrewala VN. Allgrove syndrome. Indian J Pediatr 2007 Oct;74(10):959-61.

4. Al-Mudaffer M, Oley C, Price S, et al. Clinical and radiological findings in Schinzel-Giedion syndrome. Eur J Pediatr 2008 May 7. [Epub ahead of print]

5. Albano LM, Sakae PP, Mataloun MM, et al. Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. Rev Hosp Clin Fac Med Sao Paolo 2004 Apr;59(2):89-92.

6. Luft FC. Better days are coming for Riley-Day patients. J Mol Med 2007 Feb;85(2):99-101.