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PORPHYRIA FACTS

PORPHYRIA FACTS***OCULAR MANIFESTATIONS


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1.How does porphyria affect the eyes

"Ocular manisfestations of porphjyria can be divided into those secondary to photosensitization and those related to neurological dysfunction.

Photosensitization can affect the eyelids, conjunctiva, cornea, sclera and the retina.

Inflammation can lead to vesicle and bulla formation, scarring, hyperpigmentation, and superinfection.

Neuro-ophthalmological complications include optic neuritis, optic atrophy, ptosis, cranial nerve palsies and retinal hemorrhages."

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa



Porphyria is a rare metabolic disorder that is characterized by the accumulation of photosensitive, toxic intermediates of the heme metabolic pathway in various organs of the body including the skin, eye and neural tissue.

SOURCE:
Venkatesh, P., S. P. Garg, et al.
Congenital porphyria with necrotizing scleritis in a 9-year-old child.
Clinical Experimental Ophthalmology 2000;
28(4): 314-8.



2.Can the optic nerves be affected by porphyria?

Involvement in the cranial nerves including the optic nerve can occur in the porphyrias.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa




Complications from porphyria can be divided into two general types:
photosensitization and neurovisceral.

Neurovisceral complications arise from dysfunction of central or peripheral nerves.

The etiology of the neurological changes is not known.

There can be ocular manifestaions associated with porphyria.

SOURCE:
Psoriasis, ichthyosis, and porphyria.
Steiner, G. and R. C. Arffa
Int Ophthalmology Clin
1997; 37(2): 41-61.



3.Can a person experience fuzzy eyes during an acute attack?

Visual abnormalities may occur from involvement of the optic nerves.

SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995



4.Are fuzzy eyes a part of porphyria PN?

Ocular palsies are features of the porphyric polyneuropathy, simulating GBS.

SOURCE: Porphyric Polyneurathy
Principles of Neurology
Ray D. Adams et. al
6th Edition 1997



5.Can blurring occur in optic atrophy be associated with porphyria?

Optic aptropjy and optic neuritis with disc blurring may occur in acute porphyria.

SOURCE:
Maybella Lichsteiner FNP
Optical Department



Ocular manifestations of porphyria can be divided into those secondary to photosensitization and those related to neurological dysfunction.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



"Involvement of the optic nerves can be found during acute attacks. While rare, It may lead to blindness."

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998



Cranial nerves manifestations in AIP may lead to optic nerve atrophy.

SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.



Cranial nerves manifestations in AIP may lead to optic nerve atrophy. SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.



"Transient blindness in AIP is an unusual manifestation.

Such a manifestation is probably due to involvement of the optic nerve or retinal artery spasm."

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586



6.What causes ocular problems in porphyria patients?

Ocular manifestations of porphyria can be divided into those secondary to photosensitization and those related to neurological dysfunction.

SOURCE:
"Psoriasis, ichthyosis, and porphyria"
Steiner, G. and R. C. Arffa (1997).
"Int Ophthalmol Clin 37(2): 41-61.



7.What are the main causes of optic nerve atrophy?

There are many unrelated causes of optic atrophy.

The most common cause is poor blood flow, called ischemic optic neuropathy.

The optic nerve can also be damaged by shock, various toxic substances, radiation, and trauma.

The condition can be caused by diseases of the central nervous system, such as porphyria.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA



8.Can photosensivity in cutaneous porphyria sometimes cause ocular manifestations?

Neurovisceral complications can occur due to CNS involvement due to the cranial nerves.

SOURCE: Robert Johnson M.D.


Neurological Involvement of the cranial nerves, including the optic nerve, can occur in the porphyrias marked by neurovisceral complications, such as AlP and VP.

SOURCE: "Psoriasis, ichthyosis, and porphyria"
Steiner, G. and R. C. Arffa (1997).
"Int Ophthalmol Clin 37(2): 41-61



9.What is optic neuritis that is associated with acute porphyria?

Optic neuritis involves inflammation of the optic nerve, which may cause sudden, partial loss of vision in the affected eye.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA.



10.Can optic neuritis occur during acute attacks?

In AIP optic neuritis often occurs.

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa



Optic neuritis is often found in patients in association with porphyria attacks. SOURCE: Robert Johnson M.D.
Internal Medicine



11.What is optic nerve atrophy?

Optic nerve atrophy is sometimes called a Second cranial nerve atrophy. Optic nerve atrophy involves tissue death of the nerve that carries the information of vision from the eye to the brain.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA



12.What are the symptoms of optic neuritis associated with acute porphyria?:

The symptoms of optic neuritis in acute porphyria include: (1)Acute loss of vision in one eye; (2) Loss of color vision; (3) Pain on movement of the eye; and (4) Decreased constriction of the pupil of the affected eye in bright light.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA.



13.What are the signs and symptoms of optic neuritis associated with acute porphyria?

Sudden inflammation of the optic nerve (the nerve connecting the eye and the brain leads to swelling and destruction of its outer shell, called the myelin sheath.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA.



14.What does optic nerve atrophy do?

Optic nerve atrophy causes dimming of vision and reduction of the field of vision.

The ability to see fine detail will also be lost.

The pupil reaction to light will diminish and may eventually be completely lost.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA



15.Does optic neuritis occur in AIP patients during acute attacks?:

In AIP optic neuritis often occurs.

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa



Optic neuritis is often present during and immediately following AIP attacks.

SOURCE:
Rosalind Murray MSN PA
Ophtamology



Optic nerve atrophy can occur in AIP as a cranial nerve manifestation. SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.



16.Is optic neuritis associated with VP?

In VP there can be optic neuritis.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



17.Is optic neuritis associated with HCP?

In HCP there can be optic neuritis associated with acute attacks.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



18.Is special medical treatment needed for optic nerve atrophy? Patients with optic nerve atrophy should be closely monitored by an ophthalmologist with experience in neuro-ophthalmology. Any change in vision should be reported urgently.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA.



19.What is the treatment for optic neuritis associated with acute porphyria?

Visual acuity often returns to normal within two to three weeks with no treatment. Optic neuritis has a good prognosis for recovery.

If you have optic neuritis, call your health care provider if vision decreases, pain in the eye develops, or if symptoms do not improve with treatment.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA.



20.What causes the optic nerve atrophy in porphyria?

Cranial nerves manifestations my lead to optic nerve atrophy.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto



21.What is the prognosis for optic neuritis?

Vision usually improves or returns to near normal within 2 to 3 weeks without treatment. If vision is very poor, treatment may include intravenous (IV).

SOURCE:
Multiple conditions in chronic illness
Baraugh, M.J. et. al.
Medicine
1999



Photosensitization of the eyelid skin can lead to erythema and vesicle or bulla formation. This can lead to scarring, hyperpigmentation, hypertrichosis, and superinfection.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



In Variegate Porphyria [VP] eyelid pigmentation is found. There is conjunctival scarring, optic neurities and retinal exudates.

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa



22.Can there be optic nerve atrophy in acute porphyria?

Cranial nerves manifestations my lead to optic nerve atrophy.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto



Optic atrophy may follow bilateral blindness due to acute intermittent porphyria.

SOURCE:
"Optic atrophy in acute intermittent porphyria."
DeFrancisco, M., P. J. Savino, et al.
American Journal of Ophthalmology
87(2): 221-4. 1979



23. What kinds of ocular lesions are found in porphyria patients?

Conjunctival vesicles can be seen, most commonly in the interpalpebral fissure, and may leave leukomas and symblepharon a fter healing. Infiltration of chronic inflammatory cells causes adhesions to the underlying sclera.
Neoplastic lesions have also been observed.
Limbal papillae similar to those that occur with vernal conjunctivitis may be seen.

SOURCE: "Psoriasis, ichthyosis, and porphyria"
Steiner, G. and R. C. Arffa (1997).
"Int Ophthalmol Clin 37(2): 41-61



24. Can optic atrophy occur in association with porphyria?

Optic atrophy and optic neuritis with disc blurring occur in porphyria.

SOURCE: "Psoriasis, ichthyosis, and porphyria"
Steiner, G. and R. C. Arffa (1997).
"Int Ophthalmol Clin 37(2): 41-61.



25. What can be done about the ocular disease dimensions of porphyria?

As with skin disease, prevention of ocular disease is a primary concern in the porphyrias.

UV-blocking sunglasses are important during sun'exposure.

SOURCE:
Marlene Daniels MSN RN



How can optic nerve atrophy be diagnosed?

Optic nerve atrophy can be readily detected on complete examination of the eyes.

SOURCE:
Raymond S. Douglas M.D., Ph.D.
Department of Ophthalmology
UCLA Medical Center
Los Angeles, CA



Standard methods for avoiding the complications of corneal exposure are employed when ectropion occurs.

SOURCE:
Ramaldo Svergetti M.D.
Ophthamologist



Topical antibiotic coverage is given for ruptured conjunctival and corneal vesicles, and systemic antibiotics are given for secondarily infected cutaneous bullae. SOURCE:
Marlene Daniels MSN RN



Oral steroids and scleral grafting may be necessary for scleritis.

Oral steroids may also be useful for neuropathy.

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa



26.Can transient blindness be associated with acute porphyria?

Transient blindness have been described.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa


There may be transient blindness associated with acute attacks.

SOURCE:
Robert Johnson M.D.
Internal Medicine



Transient blindness has occurred in relation to acute attacks of porphyria.

SOURCE:
Madelyn Westergaard PA
Ophthamology


Patients with acute intermittent porphyria have been known to present with acute cortical blindness.

Deleterious vasospasm in both cerebral arteries has been inferred

SOURCE:
Cortical Blindness in AIP
Kupferschmit et. al.
Annals of Internal Medicine
Volume 123 No. 8
October 15, 1995



27.What causes fuzzy eyes or near blindness during an AIP attack?

AIP patients also may have cortical blindness during an acute attack.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon



28. What causes cerebral vasoconstriction leading to cortical blindness in porphyria patients?

Severe heme deficiency during acute attacks may cause unopposed cerebral vasoconstriction due to decrease in cerebral nitric oxide production.

SOURCE:
Cortical Blindness in AIP
Kupferschmit et. al.
Annals of Internal Medicine
Volume 123 No. 8
October 15, 1995



Ocular blindness can be associated with Acute Intermittent Porphyria (AIP)

SOURCE:
Columbia Health Care
1998



AIP patients may have central nervous system signs consisting of seizures, mental status changes, cortical blindness, and coma.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
Thomas G DeLoughery,MD Associate Director
Department of Transfusion Medicine
Division of Clinical Pathology
Associate Professor Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon



29. What do MRI's show in acute porphyria patients with cortical blindness?

Magnetic resonance imagining has shown bilateral occipatal lesions.
SOURCE:
Cortical blindness in acute porphyria
Annals of Internal Medicine
Sept. 1996 Vol. 125 No. 5



"Cortical blindeness is often found in AIP patients. Often such blindness is transient.
There are limited treatment option savailable due to the contraindications of drug used in various treatments."

SOURCE:
Cortical blindness in acute intermittent porphyria.
GArg M.K. et. al.
Department of Medicine
Command Hospital
Pune India
Journal of the Association of Physicians of India
1999 July;47(7):727-9/



Involvement of the optic nerves can be found during acute attacks. It may lead to blindness. SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol.18, Number 1 January 1998



30. Can blindness occur in CEP?

In CEP subsequent bilateral corneal scarring may occur, with eventual blindness.
The risk for malignant conjunctival degeneration is low.

SOURCE: Erythropoietic Porphyria Jeanette Hebel Matthews, MD, Department of Dermatology, The Skin Surgery Center Medicine Journal, May 22 2002, Volume 3, Number 5


The characteristics found in acute porphyria cortical blindness are typical of MRI findings in patients with hypertensive encephalopathy. SOURCE:
Cortical blindness in acute porphyria
Annals of Internal Medicine
Sept. 1996 Vol. 125 No. 5



Transient blindness and visual hallucinations can also be seen.

SOURCE:
"Psoriasis, ichthyosis, and porphyria"
Steiner, G. and R. C. Arffa (1997).
"Int Ophthalmol Clin 37(2): 41-61



31. Are there eye problems such as fuzziness and blindness associated with acute attacks?

AIP patients may have central nervous system signs consisting of cortical blindness,

SOURCE:
Medicine Journal February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon



32. What is the prognosis of bilateral blindness in association with AIP?

Gradual return of vision is possible after bilateral blindness due to acute intermittent porphyria.

SOURCE:
"Optic atrophy in acute intermittent porphyria."
DeFrancisco, M., P. J. Savino, et al.
American Journal of Ophthalmology
87(2): 221-4. 1979



33. Is there eye damage or blindness associated with CEP?

In CEP ocular damage can lead to blindness.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002, Volume 3, Number 5



34. What is thought to cause the lesions found in MRI's of acute porphyria patients with cortical blindness?

It is believed that the lesions found in MRI's of acute poprhyria patients with cortical blindness have ben caused by casospasm- induced ischema due to unopposed cerbral vasoconstriction resulting from a deficiency of nitrous oxide synthase which is a major vascular dilator.

SOURCE:
Cortical blindness in acute porphyria
Annals of Internal Medicine
Sept. 1996 Vol. 125 No. 5



In a description of two AIP patients in whom cortical blindness was the first symptom of acute intermittent porphyria this article discusses. Magnetic resonance imaging showed extensive lesions involving primarily white matter of both occipital lobes consistent with vasospasm-induced ischemic lesions. SOURCE:
Transient Cortical Blindness and Bioccipital Brain Lesions
in Two Patients with Acute Intermittent Porphyria
Hugo Kupferschmidt, MD; et. al.
Annals of Internal Medicine
American College of Physicians
15 October 1995
123:598-600.



35. Can vascularization occur in association with porphyria?

Corneal ulceration, opacification and vascularization can occur.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



Vascularization has clinical been found in acute porphyria patients.

SOURCE:
Madelyn Westergaard PA
OPhthamolgy



Three patients with acute intermittent porphyria were noted to have retinal branch vessel occlusion. Branch "vein" occlusion, segmental optic atrophy, and soft exudate were the most common ocular manifestation. Two patients had labile elevated hypertension. When patients present with retinal branch vessel occlusion and a constellation of bizarre symptoms that might include hypertension, abdominal pain, acute psychotic behavior and/or cutaneous photosensitivity, the diagnosis of acute intermittent porphyria should be considered.

SOURCE:
Retinal branch vessel occlusion in acute intermittent porphyria.
Miller, S. A. and G. H. Bresnick
Annals of Ophthalmology
1979; 11(9): 1379-83



36. Does eyelid bullae occur in HEP?

In HEP there may be eyelid bullae.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



37. Is there eyelid scarring in PCT patients?

In PCT there may be eyelid scarring.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



38. Does conjunctiva change color in EPP?

In EPP the conjunctiva may develop a yellowish hue in the interpalpebral fissure.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



39. Can there be ocular color change in PCT?

Diffuse purple-red "heliotrope" changes of the central face, especially the periorbital skin, can be seen in PCT.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



Heliotropic change has been indicated in PCT patients. SOURCE:
Madelyn Westergaard PA
Ophthamology



There can be change in the periorbital skin in PCT patients.

SOURCE:
Robert Johnson M.D.
Internal Medicine



There may be a variance in color hue in EPP patients.

SOURCE:
Robert Johnson M.D.
Internal Medicine



40. Can retinal exudates occur in VP?



In VP there can be retinal exudates.

SOURCE:
Psorias, Ichthyosis and Porphyria
Griffith Steiner, Robert Arffa



Retinal exudates have been indicated in some VP patients. SOURCE:
Madelyn Westergaard PA Ophthamology



There can be change in the periorbital skin in PCT patients. SOURCE:
Robert Johnson M.D.
Internal Medicine
Marlene Daniels MSN, RN
Optic Center One Clinic



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