Keratomalacia with Descemetocele in a 2.5-month-old boy (Grand Rounds)
Keratomalacia with Descemetocele in a 2.5-month-old boy (Grand Rounds)
- 1 Chief Complaint
- 2 History
- 3 Examination
- 4 Differential Diagnosis
- 5 Initial Work-up and Treatment
- 6 Final Diagnosis
- 7 Treatment
- 8 Comments
- 9 Discussion
- 10 Contact
- 11 References
A 2.5-month-old Caucasian boy was referred from outside hospital for concern of perforated corneal ulcer in the right eye.
History of Present Illness
- Patient's mother states that her son has had mucus discharge in both eyes since a month ago.
- She was told by his pediatrician that the baby has tear duct obstruction.
- Patient was treated with Neosporin ophthalmic ointment which was stopped 4 days later because the eyelids became red and swollen.
- Two days ago, she noticed a white spot on the right eye that she tried to clean it off thinking it was mucus, but she was unable to remove it; therefore, she presented to a local eye doctor and was then immediately referred to Children's Mercy Hospital for further evaluation and treatment.
Review of Systems
- Diaper rash.
- Loose stools for the last 2 weeks
Past Medical History
- Born full term after an uncomplicated pregnancy.
- At birth, short stay in the NICU for 4-5 days due to low levels of oxygen, temperature instability, and low blood glucose.
- The mother was carrier for group B streptococcus.
- Immunizations is up to date.
- Parents and 3 siblings are healthy.
- A maternal uncle in his 30s, who has had multiple respiratory infections.
- A maternal aunt who died at 8 days of life.
- Mother and his 2 sisters have eczema.
- There are cataracts in grandparents but no other eye diseases.
- No Known Allergies
- Mylicon as needed for gas.
- The patient lives at home with his mother, father, and 3 siblings.
- He is not exposed to daycare.
- Mother states they have good access to care and Medicaid for the kids, denies any insecurity obtained food, housing, or basic needs for the family.
- OD: not able to fix and follow
- OS: fixing and following light
- OD: not visible
- OS: miotic
- Unable to evaluate for APD
- Eyelids and periorbital area without edema, erythema, or lesion
- Eyelids well apposed to the globe with no laxity or conjunctival/corneal exposure
- Examination under anesthesia (EUA)
- See the pictures
- Severe conjunctival xerosis in both eyes.
- The right cornea with a large paracentral opacity and ulceration with about 4x5 mm Seidel positive descemetocele.
- Anterior chamber was shallow and iris was adherent to the area of descemetocele
- Dilated Fundus Exam
- No view OD
- Normal disk, macula, vessels, and periphery
- Vitamin A deficiency
- Infectious keratitis
- Exposure keratopathy
- Severe dry eye
- Hereditary sensory and autonomic dysfunction syndromes (Riley—Day syndrome)
Initial Work-up and Treatment
- Corneal scrapings were performed for microbiology.
- Cyanoacrylate tissue adhesive with a bandage contact lens was applied to the right cornea.
- Treatment was started with hourly fortified vancomycin (50 mg/mL) and tobramycin (14 mg/mL) eye drops.
- Patient was admitted to the hospital for further workup.
- Serum vitamin A: <2mcg/dL (normal range:20-43)
- Sweat chloride test 127 mmol/ml (normal range: 0-29 mmol/ml)
- Corneal cultures grew no organism
- Molecular genetics: Two cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations; 1078deIT mutation and R1158X mutation.
- Vitamin A deficiency associated with cystic fibrosis
Vitamin A Deficiency
- Is one of four leading causes of preventable blindness (the other 3: cataract, trachoma, and onchocerciasis).
- Is the leading cause of preventable blindness in children.
- Is responsible for at least 20,000-100,000 new cases of blindness worldwide each year.
- Is a public health problem in more than half of all countries, especially in Africa and South-East Asia.
Etiology and Pathogenesis
- Vitamin A is an essential fat-soluble vitamin which is vital for ocular metabolism:
- Maintenance of the conjunctival and corneal epithelial surfaces
- Maintenance of retinal phototransduction and retinal pigment epithelial viability
- This vitamin must be acquired through either:
- Animal-derived products
- Vitamin A precursors known as carotenoids found in leafy green and yellow vegetables
- Synthetic vitamin A analogs known as retinoids
- The mechanisms of vitamin A deficiency include:
- Malabsorptive conditions
- Disorders that impair vitamin A metabolism or storage such as alcoholism or other chronic liver diseases
- The deficiency is rarely seen in developed western hemisphere:
- Celiac sprue
- Cystic fibrosis
- Chronic alcoholism and cirrhosis
- Self-imposed dietary practices
- After bowel resection and bariatric surgeries
Ocular Signs and Symptoms
- Night blindness
|Classification of ocular manifestations by the WHO|
|X3A||Corneal ulceration/keratomalacia < 1/3 of corneal surface|
|X3B||Corneal ulceration/keratomalacia > 1/3 of corneal surface|
- Night blindness (nyctalopia) is the most common and earliest symptom of vitamin A deficiency:
- Inadequate regeneration of rhodopsin
- Retinal function does not always correlate with anterior segment findings.
- Prolonged vitamin A deficiency leads to xerosis(dryness of the conjunctiva and cornea):
- Loss of goblet cells
- Tear film instability
- Squamous metaplasia and keratinization ocular surfaces
- Corneal ulcers and scars
- Diffuse corneal necrosis (keratomalacia)
- Bitot's spots are foamy gray, triangular spots of focal keratinized epithelium on the conjunctiva
- Histologically, Bitot's spots are tangles of keratin admixed with gas-forming saprophytic organisms (often corynebacterium xerosis) which is likely responsible for the its typical "foamy" appearance.
- Keratomalacia (in severe cases) presents as a corneal ulceration destructing the epithelium, which releasing collagenase and can cause rapid stromal liquifactive necrosis, descematocele and perforation.
- Xerophthalmic fundus, a rare associated abnormality, features yellow-white spots in the peripheral retina.
- Xerophthalmic fundus is largely a clinical oddity and does not necessarily correlate to severity of disease.
- Ocular surface diseases such as cicatricial pem phigoid, Stevens-Johnson syndrome, atopic keratoconjunctivitis, radiation and chemical injury can lead to squamous metaplasia of the ocular surface epithelia.
- Cystic fibrosis (CF) is an autosomal recessive disease with hyperviscosity of mucus secretions causing chronic pulmonary changes and pancreatic insufficiency.
- CF causes fat malabsorption resulting in fa-soluble vitamin deficiency.
- Ocular findings of CF include:
- Tear film abnormalities
- Papilledema (increased ICP)
- Infants with CF who develop vitamin A deficiency can demonstrate bulging fontanels (increased ICP) and failure to thrive before ocular signs.
- Advanced xerophthalmia has been reported as an initial sign of CF.
- However, keratomalacia is very rarely seen in children less than two years of age.
- The diagnosis of xerophthalmia constitutes a medical emergency, and immediate vitamin A replacement is important for the restoration of the ocular surface.
- WHO standard doses vary with the age of the patient:
- In children >12 months of age 200 000 lU immediately and again the following day. An additional dose should be given 2 weeks later to boost liver reserves.
- For children aged 6 to 12 months, half dosage is recommended.
- For children < 6 months of age, quarter dosage is recommended.
- In patients with malabsorptive conditions parenteral (intramuscular) replacement with water-miscible retinol palmitate is essential.
- Dramatic response of xerophthalmia after therapy with vitamin A and initiation of a cystic fibrosis regimen.
- Fortified topical antibiotics were tapered.
- Cyanoacrylate glue came off after two weeks.
- Corneal ulcer healed with a small area of residual scar, thinning, and vascularization.
- This report indicates that advanced xerophthalmia, keratomalacia, and descemetocele may be the first presenting signs in cystic fibrosis.
- This report indicates that keratomalacia associated with vitamin A deficiency can occur as early as 2-month of age.
- This case illustrates the importance of immediate treatment with vitamin A to improve xerosis, help resolving keratomalacia, and promote complete reepithelialization.
- Also, this case illustrates that immediate corneal grafting may not be indicated in keratomalacia and descemetocele in setting of vitamin A deficiency given the challenges of pediatric keratoplasty.
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Mohammad H Dastjerdi, MD Department of Ophthalmology University of Kansas
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