Ocular involvement in congenital erythropoietic porphyria (Gunther's disease): cytopathological evaluation of conjunctival and corneal changes

Hillenkamp, Jost; Reinhard, Thomas; Fritsch, Clemens; Kersten, Andreas; Böcking, Alfred; Sundmacher, Rainer

doi:10.1136/bjo.85.3.371

Cited by 13 publications

(10 citation statements)

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“…Eye complications include conjunctivitis, complete loss of eyelashes and eyebrows, scleral thinning, ulcerations, and even one case of bilateral necrotizing scleritis . Ophthalmologic alterations are due to phototoxicity from accumulation of porphyrins, which have been demonstrated to be elevated in the tears of patients with CEP . The combination of corneal scarring, which dries out the eye, and incomplete eyelid closure due to skin scarring (lagophthalmos) exposes the eye to further phototoxicity …”

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

“…Ophthalmologic alterations are due to phototoxicity from accumulation of porphyrins, which have been demonstrated to be elevated in the tears of patients with CEP . The combination of corneal scarring, which dries out the eye, and incomplete eyelid closure due to skin scarring (lagophthalmos) exposes the eye to further phototoxicity …”

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II. IntroductionThe porphyrias are a group of disorders characterized by defects in heme production, resulting in buildup of toxic heme precursors (Table 1). Cutaneous findings are common and include photosensitivity, painful burning, bullae, and scarring. Diagnosis requires laboratory measurement of heme precursors in plasma, urine, stool, and erythrocytes.Heme is made from glycine and succinyl-coenzyme A in eight steps (Fig. 1). Heme synthesis is ubiquitous throughout the body, but 85% occurs in bone marrow, becoming hemoglobin.1 Porphyrias are classified into two categories based on whether heme precursors build up in the liver (hepatic porphyrias) or bone marrow (erythropoietic porphyrias). Hepatic porphyrias are subdivided into acute and chronic subtypes, and tend to have secondary triggers (e.g., drugs, alcohol, hormone fluctuation, infection, and fasting). Acute hepatic porphyrias present with episodes (acute attacks) of abdominal or neurological symptoms caused by a genetic predisposition with a secondary metabolic trigger. Porphyria cutanea tarda (PCT), the only chronic hepatic porphyria, has a prolonged course of liver damage and photosensitivity. Erythropoietic porphyrias present in childhood with photosensitivity. While the main defect lies in the erythrocytes, the liver may also be involved. Materials and methodsA comprehensive literature search was initially performed using PubMed. Broad searches were performed using the terms "porphyria," "coproporphyria," and "protoporphyria" in the title, and "skin diseases, genetic" in the medical subject heading, but excluding for medical subject heading "acute intermittent." Articles

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Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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“…Cytopathological evaluation of the conjunctival surface in these patients by Hillenkamp et al . [ 4 ] revealed hyperkeratotic squamous cells with low-grade inflammatory cells thus supporting the use of steroids in these patients. Takamura et al .…”

Section: Discussionmentioning

confidence: 78%

“…Among those that are reported scleral necrosis, corneal and conjunctival scarring, ectropion, and hypertrichosis are the commonest. [ 2 3 4 ]…”

Section: Introductionmentioning

confidence: 99%

Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature

et al. 2015

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A 28-year-old presented with complaints of severe pain and redness in the left eye since 2 weeks. He had similar complaints in the right eye 2 years back for which he had undergone a scleral patch graft. Best corrected visual acuity was 20/20 in both eyes. The right had a well vascularized scleral graft and rest of the anterior segment was normal. The left eye had inferior conjunctival congestion with an area of the scleral melt with uveal show just temporal to the limbus in the interpalbebral area. The cornea was clear and anterior chamber was quiet in the left eye. Applanation tonometry and fundus evaluation were normal in both eyes. Physical examination revealed hyperpigmented skin lesion, hypertrichosis and absorption of distal phalanges. Laboratory, ocular and physical findings confirmed the diagnosis of congenital erythropoietic porphyria. He was on oral steroids 40 mg/day since 2 weeks and topical antibiotics and lubricants. He was advised to continue the same and was taken up for scleral patch graft with fibrin glue in the left eye. Postoperatively he was continued on topical and oral steroids and lubricants.3 weeks later the left eye had stabilized however patient came with a melt in the right eye. Since it was an early melt, we went ahead with cyanoacrylate glue and bandage contact lens in the right eye and started him on topical steroids for the right eye also. Three months later both the eyes were stable, and the patient was gradually tapered off the steroids.

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“…Contracture of the lids may result in incomplete closure of eyelids with unhealed keratitis and severe aggravation of light induced change to conjunctiva and sclera [13].…”

Section: Porphyriamentioning

confidence: 99%

Ocular Manifestations of Pediatric Systemic Disease

Lim

2016

Hanyang Med Rev

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An ocular manifestation of a systemic disease is an ocular condition that directly or indirectly results from a pathologic process from another part of the body. Ocular manifestations can occur in various systemic diseases in pediatrics. However, ocular manifestations are difficult to recognize especially in pediatric diseases because most clinicians ignore ocular involvement of systemic diseases. Ocular manifestations can be the first findings of systemic disease in some pediatric disease, and numerous ocular manifestations can be associated with amblyopia, which is a disorder of sight. Therefore we must be able to recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.Although we cannot deal with ocular manifestations of all pediatric systemic disease in this paper, we have reviewed particular diseases that are may be of interest to the general physician and pediatric ophthalmologists. This paper aims to review the ocular manifestations of various pediatric diseases. HYPERTHYROIDISMHyperthyroidism is caused by over secretion of thyroid hormone; during childhood, it is caused by Graves' hyperthyroidism, the most common cause of pediatric hyperthyroidism [1]. In children, the incidence of Graves' disease is about 1:10,000 [2]. Graves' hyperthyroidism is an autoimmune disorder; secretion of thyroidstimulating immunoglobulin that binds to and triggers the Gprotein-coupled thyroid-stimulating hormone (TSH) receptor results in diffuse enlargement of the thyroid gland. Other etiologies of hyperthyroidism include gain-of-function germline mutations in the TSH receptor, which are detected in both familial and sporadic cases of non-autoimmune hyperthyroidism. These subjects, whose disease can occur in the infantile period or in later childhood, have a hyperplastic thyroid gland with goiter and decreased levels of TSH.Childhood onset Graves' ophthalmopathy is uncommon and occurs mostly in girls. Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are describ ed. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.

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Ocular involvement in congenital erythropoietic porphyria (Gunther's disease): cytopathological evaluation of conjunctival and corneal changes

Cited by 13 publications

References 13 publications

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature

Ocular Manifestations of Pediatric Systemic Disease

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