A number sign (#) is used with this entry because angioid
streaks, in addition to being a hallmark of pseudoxanthoma elasticum (PXE; 264800), occur in other settings.
As the designation indicates, angioid streaks are
vessel-like streaks in the ocular fundus. They have been shown to be due to
cracking (crazing) in the Bruch membrane behind the retina. At least 50% of
patients with angioid streaks have other evidence of pseudoxanthoma elasticum
(in the skin and arteries, for example). Progression of the eye involvement
with retinal hemorrhages can lead to blindness (Paton,
1972).
Clarkson and Altman (1982)
listed 14 systemic disorders associated with angioid streaks. The conditions
most often associated with angioid streaks are Paget disease of bone (602080) and sickle cell anemia (603903) (Geeraets
and Guerry, 1960) and thalassemia (see 141900) (Aessopos
et al., 1989). Other frequently associated
disorders include tumoral calcinosis with hyperphosphatemia (211900), hemochromatosis (235200), and lead poisoning.
Green et al. (1966)
found typical angioid streaks in 2 of 6 affected members of a kindred with
Ehlers-Danlos syndrome (see 130000). Although the diagnosis of both
angioid streaks and Ehlers-Danlos syndrome seems unequivocal, the association
may have been coincidental because the association has not been described by
others (McKusick, 2002).
Gorin et al. (1994)
described a 32-year-old Jewish male and a 36-year-old Japanese female who had
abetalipoproteinemia (200100) associated with angioid streaks. The
association had previously been noted by Muller
and Lloyd (1982) and Dieckert et al. (1989). Gorin et al. (1994)
suggested that a common metabolic pathway involving trace element deficiencies
may account for the association with abetalipoproteinemia and certain other
rare disorders.
Choroidal neovascularization is the major cause of vision
loss associated with angioid streaks. The pathogenesis of choroidal
neovascularization associated with angioid streaks is believed to be related to
cracks in the Bruch membrane, which allow new vessels to invade the subretinal
space. Karacorlu et al. (2002) found that photodynamic therapy using verteporfin
generally achieved short-term cessation of or decrease of fluorescein leakage
from subfoveal choroidal neovascularization without loss of vision in patients
with angioid streaks. No photodynamic therapy-related ocular complications were
reported in any case in this study.
Angioid
streaks in homozygous beta thalassemia. Am.
J. Ophthal. 108: 356-359, 1989.
PubMed ID : 2801854
2. Clarkson, J. G.; Altman, R. D. :
Angioid
streaks Surv. Ophthal. 26: 235-246, 1982.
3. Dieckert, J.; White, M.; Christmann, L.; Lambert, H. :
Angioid
streaks associated with abetalipoproteinemia. Ann. Ophthal. 21:
172-175, and 179 only, 1989.
4. Geeraets, W.; Guerry, D. :
Angioid
streaks and sickle cell disease. Am. J.
Ophthal. 49: 450-470, 1960.
PubMed ID : 13827077
5. Gorin, M. B.; Paul, T. O.; Rader, D. J. :
Angioid
streaks associated with abetalipoproteinemia. Ophthal. Genet. 15:
151-159, 1994.
6. Green, W. R.; Friedman-Kien, A.; Banfield, W. G. :
Angioid
streaks in Ehlers-Danlos syndrome. Arch.
Ophthal. 76: 197-204, 1966.
PubMed ID : 5945174
7. Karacorlu, M.; Karacorlu, S.; Ozdemir, H.; Mat, C. :
Photodynamic
therapy with verteporfin for choroidal neovascularization in patients with
angioid streaks. Am. J. Ophthal. 134: 360-366, 2002.
PubMed ID : 12208247
8. McKusick, V. A. :
Personal
Communication. Baltimore, Md., 10/21/2002.
9. Muller, D.; Lloyd, J. :
Effect
of large oral doses of vitamin E on the neurological sequelae of patients with
abetalipoproteinemia. Ann. N.Y. Acad.
Sci. 393: 133-144, 1982.
PubMed ID : 6959555
10. Paton, D. :
The
Relation of Angioid Streaks to Systemic Disease. Springfield, Ill.: Charles C Thomas, , 1972.
CONTRIBUTORS
Jane Kelly - updated : 3/3/2003
Victor A. McKusick - updated : 10/15/2002
Irregular, spokelike, curvilinear breaks in Bruch's membrane.
Radiate outward from the peripapillary area in all directions.
Almost always bilateral.
Red to dark brown in color; gray if fibrovascular tissue is present.
Hyperpigmentation or atrophy of retinal pigment epithelium (RPE) may occur at
the margin of a streak.
Streaks asymptomatic, but complications cause visual loss.
Main cause of visual loss is choroidal neovascularization (CNVM), RPE
detachment, and macular degeneration.
In one series, macular degeneration in 72%, exudative maculopathy in 57%,
atrophic maculopathy in 14%.
In another series, macular degeneration associated with length of streak and
distance of streak from fovea.
FLUORESCEIN ANGIOGRAPHIC FINDINGS
Most observe early hyperfluorescence of streaks with late staining.
Others observe hypofluorescence of streaks themselves with hyperfluorescence of
margins of streaks, which stain late.
Theory is underlying choriocapillaris may separate and produce nonperfusion
area of streak itself, which may cause hypofluorescence.
Peau d'orange: hypofluorescent areas on F.A., which may represent focal defects
of Bruch's membrane and choriocapillaris.
NATURAL HISTORY
Asymptomatic early.
20/200 or worse after 50 y.o.
In one study, >50% 20/40 at diagnosis, >50% worse than 20/200 at average
of 3.6 y.
Cause of vision loss is macular degeneration or choroidal neovascularization.
Macular degeneration in 70% of those with angioid streaks.
Exudative form more common than atrophic type of maculopathy in patients with
angioid streaks.
Exudative form less common with angioid streaks associated with sickle cell
disease.
Not always associated with foveal angioid streak and does not occur in all
patients with a streak through fovea.
CNVM present in at least one eye of 86% of those with angioid steaks.
Minor trauma may cause subretinal hemorrhage, often with macular involvement.
SYSTEMIC ASSOCIATIONS
Occurs in 50-65% of those with angioid streaks.
PXE (34-61%), Paget's disease (10%), and hemoglobinopathy (6%).
Pseudoxanthoma Elasticum (PXE)
Systemic elastorrhexis affecting skin, eyes, GI system, heart.
Female:male = 2:1
Diagnosed 20's - 30's.
Inherited either A.R. or A.D.
Thought to be a result of accumulation of polyanions in dermis that attract
calcium, which cause mineralization.
Skin changes: Redundant waxy, yellow papule-like lesions on neck, face,
abdomen, axillary areas, inguinal regions, periumbilical area, and oral
mucosa-"plucked chicken."
Skin biopsy: elastic tissue staining of the deep dermis, often with
calcification.
Peau d'orange: diffuse mottling of the RPE (multiple yellowish lesions).
Optic disk drusen: commonly associated with PXE and angioid streaks (10%,
5.8%).
Incidence 20-50 times normal in patients with PXE.
Disk drusen first manifestation?
Paget's Disease
Connective tissue disorder involving collagen matrix of bone.
Males=females.
Enlarged bone mass, extraskeletal calcifications of skin and arteries.
Elevated serum alkaline phosphatase and characteristic radiographic findings
Angioid streaks found in 8 - 15%.
Presence of angioid streaks associated with more severe systemic disease.
Hemoglobinopathies
Appear in 1-2% of patients with hemoglobinopathies.
Incidence increases with age.
Complications (CNVM and macular degeneration) uncommon with angioid streaks
associated with sickle cell disease.
Other Systemic Associations
Many-question coincidence.
Ehlers-Danlos
PATHOPHYSIOLOGY
Controversial.
Calcified and brittle Bruch's membrane in PXE and Paget's.
Various theories for sickle cell-elastic degeneration, iron deposition,
impaired nutrition, small vessel occlusion.
TREATMENT
Safety glasses. No contact sports. Low vision aids. Genetic counseling.
CNVM treated with laser. Recurrences more common with CNVM associated with
angioid streaks than with CNVM associated with other macular disorders.
Case Report:............................
POH: Diagnosed with pseudoxanthoma elasticum (PXE) at approximately age 48.
Transferred care to Wilmer at age 52, reporting gradual loss of central vision
and previous laser therapy O.D. At that time, her VA was 20/300 O.D. and 4/200
O.S. Angioid streaks and disciform scars were noted on each fundus. Her
refraction was maximized at +7.25 sphere O.U., and she uses magnifying low
vision aids.
She was diagnosed with glaucoma with IOP = 20 O.D., 28 O.S., and C/D = 0.6
O.D., 0.8 O.S. This was managed with multiple medications and eventually
necessitated an argon laser trabeculoplasty O.S. to meet the target I.O.P. of
15.
She presents to the General Eye Service for routine follow up without new
ocular symptoms.
A number sign (#) is used with this entry because angioid
streaks, in addition to being a hallmark of pseudoxanthoma elasticum (PXE; 264800), occur in other settings.
As the designation indicates, angioid streaks are
vessel-like streaks in the ocular fundus. They have been shown to be due to
cracking (crazing) in the Bruch membrane behind the retina. At least 50% of
patients with angioid streaks have other evidence of pseudoxanthoma elasticum
(in the skin and arteries, for example). Progression of the eye involvement
with retinal hemorrhages can lead to blindness (Paton,
1972).
Clarkson and Altman (1982)
listed 14 systemic disorders associated with angioid streaks. The conditions
most often associated with angioid streaks are Paget disease of bone (602080) and sickle cell anemia (603903) (Geeraets
and Guerry, 1960) and thalassemia (see 141900) (Aessopos
et al., 1989). Other frequently associated
disorders include tumoral calcinosis with hyperphosphatemia (211900), hemochromatosis (235200), and lead poisoning.
Green et al. (1966) found
typical angioid streaks in 2 of 6 affected members of a kindred with
Ehlers-Danlos syndrome (see 130000). Although the diagnosis of both
angioid streaks and Ehlers-Danlos syndrome seems unequivocal, the association
may have been coincidental because the association has not been described by
others (McKusick, 2002).
Gorin et al. (1994)
described a 32-year-old Jewish male and a 36-year-old Japanese female who had
abetalipoproteinemia (200100) associated with angioid streaks. The
association had previously been noted by Muller
and Lloyd (1982) and Dieckert et al. (1989). Gorin et al. (1994)
suggested that a common metabolic pathway involving trace element deficiencies
may account for the association with abetalipoproteinemia and certain other
rare disorders.
Choroidal neovascularization is the major cause of vision
loss associated with angioid streaks. The pathogenesis of choroidal
neovascularization associated with angioid streaks is believed to be related to
cracks in the Bruch membrane, which allow new vessels to invade the subretinal
space. Karacorlu et al. (2002) found that photodynamic therapy using verteporfin
generally achieved short-term cessation of or decrease of fluorescein leakage
from subfoveal choroidal neovascularization without loss of vision in patients
with angioid streaks. No photodynamic therapy-related ocular complications were
reported in any case in this study.
Angioid
streaks in homozygous beta thalassemia. Am.
J. Ophthal. 108: 356-359, 1989.
PubMed ID : 2801854
2. Clarkson, J. G.;
Altman, R. D. :
Angioid
streaks Surv. Ophthal. 26: 235-246, 1982.
3. Dieckert, J.;
White, M.; Christmann, L.; Lambert, H. :
Angioid
streaks associated with abetalipoproteinemia. Ann. Ophthal. 21:
172-175, and 179 only, 1989.
4. Geeraets, W.;
Guerry, D. :
Angioid
streaks and sickle cell disease. Am. J.
Ophthal. 49: 450-470, 1960.
PubMed ID : 13827077
5. Gorin, M. B.;
Paul, T. O.; Rader, D. J. :
Angioid
streaks associated with abetalipoproteinemia. Ophthal. Genet. 15:
151-159, 1994.
6. Green, W. R.;
Friedman-Kien, A.; Banfield, W. G. :
Angioid
streaks in Ehlers-Danlos syndrome. Arch.
Ophthal. 76: 197-204, 1966.
PubMed ID : 5945174
7. Karacorlu, M.;
Karacorlu, S.; Ozdemir, H.; Mat, C. :
Photodynamic
therapy with verteporfin for choroidal neovascularization in patients with
angioid streaks. Am. J. Ophthal. 134: 360-366, 2002.
PubMed ID : 12208247
8. McKusick, V. A.
:
Personal
Communication. Baltimore, Md., 10/21/2002.
9. Muller, D.;
Lloyd, J. :
Effect
of large oral doses of vitamin E on the neurological sequelae of patients with
abetalipoproteinemia. Ann. N.Y. Acad.
Sci. 393: 133-144, 1982.
PubMed ID : 6959555
10. Paton, D. :
The
Relation of Angioid Streaks to Systemic Disease. Springfield, Ill.: Charles C Thomas, , 1972.
CONTRIBUTORS
Jane Kelly - updated : 3/3/2003
Victor A. McKusick - updated : 10/15/2002
Irregular, spokelike, curvilinear breaks in Bruch's membrane.
Radiate outward from the peripapillary area in all directions.
Almost always bilateral.
Red to dark brown in color; gray if fibrovascular tissue is present.
Hyperpigmentation or atrophy of retinal pigment epithelium (RPE) may occur at the
margin of a streak.
Streaks asymptomatic, but complications cause visual loss.
Main cause of visual loss is choroidal neovascularization (CNVM), RPE
detachment, and macular degeneration.
In one series, macular degeneration in 72%, exudative maculopathy in 57%,
atrophic maculopathy in 14%.
In another series, macular degeneration associated with length of streak and
distance of streak from fovea.
FLUORESCEIN ANGIOGRAPHIC FINDINGS
Most observe early hyperfluorescence of streaks with late staining.
Others observe hypofluorescence of streaks themselves with hyperfluorescence of
margins of streaks, which stain late.
Theory is underlying choriocapillaris may separate and produce nonperfusion
area of streak itself, which may cause hypofluorescence.
Peau d'orange: hypofluorescent areas on F.A., which may represent focal defects
of Bruch's membrane and choriocapillaris.
NATURAL HISTORY
Asymptomatic early.
20/200 or worse after 50 y.o.
In one study, >50% 20/40 at diagnosis, >50% worse than 20/200 at average
of 3.6 y.
Cause of vision loss is macular degeneration or choroidal neovascularization.
Macular degeneration in 70% of those with angioid streaks.
Exudative form more common than atrophic type of maculopathy in patients with
angioid streaks.
Exudative form less common with angioid streaks associated with sickle cell
disease.
Not always associated with foveal angioid streak and does not occur in all
patients with a streak through fovea.
CNVM present in at least one eye of 86% of those with angioid steaks.
Minor trauma may cause subretinal hemorrhage, often with macular involvement.
SYSTEMIC ASSOCIATIONS
Occurs in 50-65% of those with angioid streaks.
PXE (34-61%), Paget's disease (10%), and hemoglobinopathy (6%).
Pseudoxanthoma Elasticum (PXE)
Systemic elastorrhexis affecting skin, eyes, GI system, heart.
Female:male = 2:1
Diagnosed 20's - 30's.
Inherited either A.R. or A.D.
Thought to be a result of accumulation of polyanions in dermis that attract
calcium, which cause mineralization.
Skin changes: Redundant waxy, yellow papule-like lesions on neck, face,
abdomen, axillary areas, inguinal regions, periumbilical area, and oral
mucosa-"plucked chicken."
Skin biopsy: elastic tissue staining of the deep dermis, often with
calcification.
Peau d'orange: diffuse mottling of the RPE (multiple yellowish lesions).
Optic disk drusen: commonly associated with PXE and angioid streaks (10%,
5.8%).
Incidence 20-50 times normal in patients with PXE.
Disk drusen first manifestation?
Paget's Disease
Connective tissue disorder involving collagen matrix of bone.
Males=females.
Enlarged bone mass, extraskeletal calcifications of skin and arteries.
Elevated serum alkaline phosphatase and characteristic radiographic findings
Angioid streaks found in 8 - 15%.
Presence of angioid streaks associated with more severe systemic disease.
Hemoglobinopathies
Appear in 1-2% of patients with hemoglobinopathies.
Incidence increases with age.
Complications (CNVM and macular degeneration) uncommon with angioid streaks
associated with sickle cell disease.
Other Systemic Associations
Many-question coincidence.
Ehlers-Danlos
PATHOPHYSIOLOGY
Controversial.
Calcified and brittle Bruch's membrane in PXE and Paget's.
Various theories for sickle cell-elastic degeneration, iron deposition,
impaired nutrition, small vessel occlusion.
TREATMENT
Safety glasses. No contact sports. Low vision aids. Genetic counseling.
CNVM treated with laser. Recurrences more common with CNVM associated with
angioid streaks than with CNVM associated with other macular disorders.
Case Report:............................
POH: Diagnosed with pseudoxanthoma elasticum (PXE) at approximately age 48.
Transferred care to Wilmer at age 52, reporting gradual loss of central vision
and previous laser therapy O.D. At that time, her VA was 20/300 O.D. and 4/200
O.S. Angioid streaks and disciform scars were noted on each fundus. Her
refraction was maximized at +7.25 sphere O.U., and she uses magnifying low
vision aids.
She was diagnosed with glaucoma with IOP = 20 O.D., 28 O.S., and C/D = 0.6
O.D., 0.8 O.S. This was managed with multiple medications and eventually
necessitated an argon laser trabeculoplasty O.S. to meet the target I.O.P. of
15.
She presents to the General Eye Service for routine follow up without new
ocular symptoms.
