Vitamin A deficiency

This systemic condition affects organs throughout the body. The ocular manifestation is termed xerophthalmia and affected individuals present with night blindness, conjunctival xerosis, Bitot’s spots, corneal xerosis, keratomalacia, and the “xerophthalmic” fundus.

In this condition, the conjunctival epithelium is transformed from the normal columnar to the stratified squamous type. There is an associated loss of goblet cells, formation of a granular cell layer, and keratinization of the surface. The conjunctiva loses its normal lustre and is altered into a dry or unwettable one (Fig. 31.1). It is almost always bilateral. A classic ocular sign is Bitot’s spots, which is a superficial, scaly, gray area on the interpalpebral region of the bulbar conjunctiva (Fig. 31.2). Corynebacterium xerosis can colonize these spots, and produce a foamy appearance because of the gas-forming nature of these organisms. If untreated, the condition involves the cornea, causing corneal xerosis and finally corneal melting, or keratomalacia.

Fig. 31.1 Xerophthalmia. Dry, lustureless, inferior bulbar conjunctiva showing a wrinkled appearance. Associated corneal xerosis is also seen.

(Courtesy of Dr. P. Vijayalakshmi, MS.)

Fig. 31.2 Bitot’s spot. A superficial, scaly, foamy Bitot’s spot of the bulbar conjunctiva.

The diagnosis of xerophthalmia is often clinical and does not require any additional investigations. In doubtful cases, impression cytology of the superficial layers of the conjunctival epithelium may be helpful to show the loss of goblet cells and keratinization of epithelial cells. Oral administration of vitamin A is preferred because it is safe, cost-effective, and highly effective. In affected children above 12 months of age, retinol palmitate (110 mg) or retinol acetate (200 000 IU) are given orally immediately and the dose is repeated the following day. An additional dose should be given 2 weeks later to boost liver resources. Children between 6 and 11 months should receive only half the above-mentioned dose, and children less than 6 months one-quarter of the dose.

Parenteral administration is indicated in those children with conditions such as persistent vomiting, severe stomatitis, and attendant difficulty in deglutition, severe diarrhea with malabsorption, and septic shock. Such children can be treated with intramuscular injection of 55 mg of water-miscible retinol palmitate (100 000 IU), which replaces the first oral dose. This is repeated the next day. Children of less than 1 year are treated with vitamin A in half the prescribed dosage. After the acute phase is over, dietary supplements with provitamin A-rich foods, should be provided.²

Xeroderma pigmentosa

This condition is inherited as an autosomal recessive disorder. Symptoms appear in early childhood. Affected individuals present with extreme photophobia, photosensitivity, and typical dark pigmentary changes in the skin. They are at an increased risk for malignant lesions in sun-exposed mucocutaneous and ocular structures (Fig. 31.3A). There is an impaired ability to repair ultraviolet light-induced DNA damage, which results in accumulation of the damaged DNA. This accumulation of abnormal DNA leads to chromosomal mutation and cell death and is thought to be responsible for neoplasms in these individuals.

Fig. 31.3 Xeroderma pigmentosa. (A) The widespread skin pigmentation can be seen in this girl of Indian origin. (B) The conjunctiva was affected by multifocal recurrent squamous cell carcinomas.

Conjunctival involvement occurs mostly in the interpalpebral area in the form of xerosis, telangiectasia, chronic conjunctival congestion, pigmentation, pinguecula, and pterygium. Ocular surface neoplasms such as squamous cell carcinoma, basal cell carcinoma, and malignant melanoma may occur, with a predilection for the limbal area (Fig. 31.3B). Corneal changes include exposure keratitis, band-shaped nodular keratopathy, scarring, ulceration, vascularization, and perforation. The posterior segment is usually spared. Elevated symptomatic conjunctival nodules and suspected neoplasms may require repeated excisions; otherwise the treatment is symptomatic.

Sturge-Weber syndrome

This is a congenital disorder with a classical triad of cutaneous facial angioma, leptomeningeal angioma, and ocular involvement (see Chapter 65). The facial angioma typically occurs in the distribution of the ophthalmic division of the trigeminal nerve. Dilated episcleral and conjunctival vessels with aneurysm formation in the limbal area are commonly seen. Glaucoma is a frequent accompaniment (see Chapter 37), especially in patients with severe conjunctival involvement.³

Icthyosis

Ichthyosis is a heterogeneous family of at least 28 genetic skin disorders. Most pedigrees are either autosomal dominant or X-linked in their inheritance pattern. A rare autosomal recessive form, lamellar icthyosis, occurs. In all these conditions, dry scaly lesions are present predominantly over the upper half of the body, mainly around the neck, mouth, and trunk. The conjunctiva may become inflamed primarily or secondarily due to lid anomalies like ectropion.⁴ A papillary reaction may develop (Fig. 31.4). The treatment is to provide adequate lubrication and to correct the lid abnormalities, if present.

Fig. 31.4 Icthyosis. (A) There is keratinization of the upper palpebral conjunctiva secondary to ectropion of the upper lids. (B) The classical “stretched out” skin lesions are seen predominantly around the mouth and neck.

Anemia

Conjunctival pallor is a sensitive and commonly used sign to detect anemia in children. This examination should preferably be done in broad daylight and correlated with the other systemic indicators. An important causative factor, especially in underdeveloped economies, is systemic helminthiasis. Conjunctival pallor can be masked by conjunctival inflammation, notably trachoma.

Leukemias

Involvement of the conjunctiva is not a common feature of leukemia. It occurs in approximately 4% of all patients with this disease. However, it may be the initial sign of the disease or of a relapse. Herein lies the importance of early recognition. The affected individuals present initially with congestion of the bulbar (particularly the perilimbal area) or the palpebral conjunctiva. In some instances, the conjunctiva may be erythematous and chemotic. The lesions are firm and non-tender and often associated with subconjunctival hemorrhage.

Histopathologically, the cells infiltrate all layers of the substantia propria. The infiltration may be diffuse or patchy and typically localize around the blood vessels. The conjunctival lesions usually respond rapidly to systemic chemotherapy.

Measles keratoconjunctivitis

Measles typically produces a bilateral keratoconjunctivitis. The characteristic Koplik’s spots may be seen in the conjunctiva. The plica semilunaris may be swollen. Epithelial keratitis may supervene early in children and late in adults. The signs usually resolve without sequelae in the immunocompetent and well-nourished. Treatment is symptomatic and topical anti-inflammatory therapy may provide relief. In children with protein/energy malnutrition, this disease can be particularly devastating. Vitamin A deficiency is also present and may present with rapid keratomalacia. Secondary bacterial infection is common in immunodeficient individuals.

Alkaptonuria

This is a rare autosomal recessive disorder in which an affected individual’s urine turns a dark brown-blackish color when exposed to air. It is linked to chromosome 3q21-q24, caused by a deficiency of homogentisic 1,2-dioxygenase.⁵ This deficiency results in accumulation of homogentisic acid, which gets deposited in various tissues and organs. Systemic features include pigmentation over the face and nails, calcific and atherosclerotic heart disease, and arthritis. Ocular manifestations include a brown to black pigmentation of the nasal and temporal sclera especially in the area of the horizontal rectus muscle insertions. Pigmentation of the cornea has been reported.

Ataxia telangiectasia (Louis-Bar syndrome)

The condition is a rare autosomal recessive disorder characterized by early onset cerebellar ataxia, oculocutaneous telangiectasia, ocular motor apraxia (saccadic initiation failure), dysarthria, and immunodeficiency. Of these, ataxia is the first sign and is progressive. Chromosomal fragility and increasing susceptibility to ionizing radiation result in a predilection to malignant disorders such as lymphomas and leukemias. Affected individuals tend to have high levels of alpha-fetoprotein in their blood.

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