Blue sclera: Difference between revisions
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==Overview== | ==Overview== | ||
The sclera is a vascularized connective tissue structure of the [[eye]] composed of several types of collagen fibers, mainly collagen type I as well as elastin, proteoglycans and glycoproteins. Blue sclera is caused by the slimness and transparency of the collagen fibers of the sclera that allow the visualization of the [[uvea]]. | The sclera is a vascularized connective tissue structure of the [[eye]] composed of several types of [[collagen]] fibers, mainly collagen type I as well as [[elastin]], [[proteoglycans]] and [[glycoproteins]]. [[Blue sclera]] is caused by the slimness and transparency of the collagen fibers of the sclera that allow the visualization of the [[uvea]]. | ||
==Causes== | ==Causes== | ||
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===Common Causes=== | ===Common Causes=== | ||
* [[Alkaptonuria ]] | * [[Alkaptonuria ]] | ||
* [[Ehlers- | * [[Ehlers-Danlos Syndrome]] | ||
* [[Hypophosphatasia]] | |||
* Juvenile [[Paget's disease]] | |||
* [[Marfan's syndrome]] | |||
* [[Osteogenesis imperfecta]] | |||
*[[Pseudoxanthoma elasticum]] | |||
===Causes by Organ System=== | ===Causes by Organ System=== | ||
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{|style="width:80%; height:100px" border="1" | {|style="width:80%; height:100px" border="1" | ||
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular''' | |style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular''' | ||
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | [[Loeys- | |style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | [[Loeys-Dietz syndrome]], | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Ear Nose Throat''' | | '''Ear Nose Throat''' | ||
|bgcolor="Beige"| Van der | |bgcolor="Beige"| [[Van der Hoeve's Syndrome]] | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Genetic''' | | '''Genetic''' | ||
|bgcolor="Beige"| [[Alkaptonuria ]], developmental delay hypotonia extremities hypertrophy, | |bgcolor="Beige"| [[Alkaptonuria ]], developmental delay hypotonia extremities hypertrophy, [[Ehlers-Danlos Syndrome]], [[incontinentia pigmenti]], Juvenile [[Paget's disease]], [[laron dwarfism]], [[lobstein disease ]], [[Loeys-Dietz syndrome]], [[marfan's syndrome ]], marshall-smith-weaver syndrome, [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], [[recurrent hereditary polyserositis]], willems de vries syndrome. | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Hematologic''' | | '''Hematologic''' | ||
|bgcolor="Beige"| Diamond- | |bgcolor="Beige"| [[Diamond-Blackfan anemia]], [[hypophosphatasia]]. | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Musculoskeletal / Ortho''' | | '''Musculoskeletal / Ortho''' | ||
|bgcolor="Beige"| Ehlers- | |bgcolor="Beige"| [[Ehlers-Danlos Syndrome]], Juvenile [[Paget's disease]], [[lobstein disease ]], [[Loeys-Dietz syndrome]], [[marfan's syndrome ]], marshall-smith-weaver syndrome, [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], osteoporosis-pseudoglioma syndrome, pelvic dysplasia arthrogryposis of lower limbs, pilo dento ungular dysplasia microcephaly, [[pseudoxanthoma elasticum]], ray-peterson-scott syndrome, spondyloepimetaphyseal dysplasia joint laxity, [[Van der Hoeve's Syndrome]]. | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Neurologic''' | | '''Neurologic''' | ||
|bgcolor="Beige"| Bd syndrome, chitayat-moore-del bigio syndrome, daentl-townsend-siegel syndrome, developmental delay hypotonia extremities hypertrophy, | |bgcolor="Beige"| Bd syndrome, chitayat-moore-del bigio syndrome, daentl-townsend-siegel syndrome, developmental delay hypotonia extremities hypertrophy, osteoporosis-pseudoglioma syndrome, ray-peterson-scott syndrome. | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Ophthalmologic''' | | '''Ophthalmologic''' | ||
|bgcolor="Beige"| [[Alkaptonuria ]], Bd syndrome , Diamond- | |bgcolor="Beige"| [[Alkaptonuria ]], Bd syndrome, [[Diamond-Blackfan anemia]], Grant syndrome, [[hypophosphatasia]], [[incontinentia pigmenti ]], [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], [[recurrent hereditary polyserositis]], [[Van der Hoeve's Syndrome]], [[Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency ]]. | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
| '''Psychiatric''' | | '''Psychiatric''' | ||
|bgcolor="Beige"| | |bgcolor="Beige"| Chitayat-moore-del bigio syndrome | ||
|- | |- | ||
|-bgcolor="LightSteelBlue" | |-bgcolor="LightSteelBlue" | ||
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===Causes in Alphabetical Order=== | ===Causes in Alphabetical Order=== | ||
*[[Alkaptonuria ]] | *[[Alkaptonuria ]] | ||
* Bd syndrome | * Bd syndrome | ||
* Chitayat-moore-del bigio syndrome | * Chitayat-moore-del bigio syndrome | ||
* Daentl-townsend-siegel syndrome | * Daentl-townsend-siegel syndrome | ||
* Developmental delay | * Developmental delay hypotonia extremities hypertrophy | ||
* Diamond- | *[[Diamond-Blackfan anemia]] | ||
* Ehlers- | * [[Ehlers-Danlos Syndrome]] | ||
* Grant syndrome | * Grant syndrome | ||
*[[Hypophosphatasia]] <font color="white">Fried Spine Disorder, FSD-1</font> | *[[Hypophosphatasia]] <font color="white">Fried Spine Disorder, FSD-1</font> | ||
*[[Incontinentia pigmenti ]] | *[[Incontinentia pigmenti]] | ||
* Juvenile | * Juvenile [[Paget's disease]] | ||
*[[Laron dwarfism]] | *[[Laron dwarfism]] | ||
*[[Lobstein disease ]] | *[[Lobstein disease ]] | ||
* Loeys- | *[[Loeys-Dietz syndrome]] | ||
*[[Marfan's syndrome ]] | *[[Marfan's syndrome ]] | ||
* Marshall-smith-weaver syndrome <font color="white">Fried Spine Disorder, FSD-1</font> | * Marshall-smith-weaver syndrome <font color="white">Fried Spine Disorder, FSD-1</font> | ||
* | * [[Jansen's metaphyseal chondrodysplasia]] | ||
* Normal in newborns <font color="white">IPFS-1</font> | * Normal in newborns <font color="white">IPFS-1</font> | ||
*[[Osteogenesis imperfecta]] | *[[Osteogenesis imperfecta]] | ||
* Osteoporosis-pseudoglioma syndrome | * Osteoporosis-pseudoglioma syndrome | ||
* Pelvic dysplasia arthrogryposis of lower limbs | * Pelvic dysplasia arthrogryposis of lower limbs | ||
* Pilo dento ungular dysplasia microcephaly | * Pilo dento ungular dysplasia microcephaly | ||
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*[[Retigabine]] | *[[Retigabine]] | ||
* Spondyloepimetaphyseal dysplasia joint laxity <font color="white">Animalitic Virus</font> | * Spondyloepimetaphyseal dysplasia joint laxity <font color="white">Animalitic Virus</font> | ||
* Van der | *[[Van der Hoeve's Syndrome]] | ||
*[[Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency ]] | *[[Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency ]] | ||
* Willems de vries syndrome | * Willems de vries syndrome | ||
Latest revision as of 16:15, 28 October 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Carlos A Lopez, M.D. [2]
Overview
The sclera is a vascularized connective tissue structure of the eye composed of several types of collagen fibers, mainly collagen type I as well as elastin, proteoglycans and glycoproteins. Blue sclera is caused by the slimness and transparency of the collagen fibers of the sclera that allow the visualization of the uvea.
Causes
Life Threatening Causes
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
Common Causes
- Alkaptonuria
- Ehlers-Danlos Syndrome
- Hypophosphatasia
- Juvenile Paget's disease
- Marfan's syndrome
- Osteogenesis imperfecta
- Pseudoxanthoma elasticum
Causes by Organ System
Cardiovascular | Loeys-Dietz syndrome, |
Chemical / poisoning | No underlying causes |
Dermatologic | No underlying causes |
Drug Side Effect | Retigabine |
Ear Nose Throat | Van der Hoeve's Syndrome |
Endocrine | Laron dwarfism |
Environmental | No underlying causes |
Gastroenterologic | No underlying causes |
Genetic | Alkaptonuria , developmental delay hypotonia extremities hypertrophy, Ehlers-Danlos Syndrome, incontinentia pigmenti, Juvenile Paget's disease, laron dwarfism, lobstein disease , Loeys-Dietz syndrome, marfan's syndrome , marshall-smith-weaver syndrome, Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, recurrent hereditary polyserositis, willems de vries syndrome. |
Hematologic | Diamond-Blackfan anemia, hypophosphatasia. |
Iatrogenic | No underlying causes |
Infectious Disease | No underlying causes |
Musculoskeletal / Ortho | Ehlers-Danlos Syndrome, Juvenile Paget's disease, lobstein disease , Loeys-Dietz syndrome, marfan's syndrome , marshall-smith-weaver syndrome, Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, osteoporosis-pseudoglioma syndrome, pelvic dysplasia arthrogryposis of lower limbs, pilo dento ungular dysplasia microcephaly, pseudoxanthoma elasticum, ray-peterson-scott syndrome, spondyloepimetaphyseal dysplasia joint laxity, Van der Hoeve's Syndrome. |
Neurologic | Bd syndrome, chitayat-moore-del bigio syndrome, daentl-townsend-siegel syndrome, developmental delay hypotonia extremities hypertrophy, osteoporosis-pseudoglioma syndrome, ray-peterson-scott syndrome. |
Nutritional / Metabolic | Alkaptonuria , hypophosphatasia. |
Obstetric/Gynecologic | No underlying causes |
Oncologic | No underlying causes |
Ophthalmologic | Alkaptonuria , Bd syndrome, Diamond-Blackfan anemia, Grant syndrome, hypophosphatasia, incontinentia pigmenti , Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, recurrent hereditary polyserositis, Van der Hoeve's Syndrome, Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency . |
Overdose / Toxicity | No underlying causes |
Psychiatric | Chitayat-moore-del bigio syndrome |
Pulmonary | No underlying causes |
Renal / Electrolyte | Daentl-townsend-siegel syndrome |
Rheum / Immune / Allergy | No underlying causes |
Sexual | No underlying causes |
Trauma | No underlying causes |
Urologic | No underlying causes |
Miscellaneous | No underlying causes |
Causes in Alphabetical Order
- Alkaptonuria
- Bd syndrome
- Chitayat-moore-del bigio syndrome
- Daentl-townsend-siegel syndrome
- Developmental delay hypotonia extremities hypertrophy
- Diamond-Blackfan anemia
- Ehlers-Danlos Syndrome
- Grant syndrome
- Hypophosphatasia Fried Spine Disorder, FSD-1
- Incontinentia pigmenti
- Juvenile Paget's disease
- Laron dwarfism
- Lobstein disease
- Loeys-Dietz syndrome
- Marfan's syndrome
- Marshall-smith-weaver syndrome Fried Spine Disorder, FSD-1
- Jansen's metaphyseal chondrodysplasia
- Normal in newborns IPFS-1
- Osteogenesis imperfecta
- Osteoporosis-pseudoglioma syndrome
- Pelvic dysplasia arthrogryposis of lower limbs
- Pilo dento ungular dysplasia microcephaly
- Pseudoxanthoma elasticum
- Ray-peterson-scott syndrome Animalitic Virus
- Recurrent hereditary polyserositis IPFS-1
- Retigabine
- Spondyloepimetaphyseal dysplasia joint laxity Animalitic Virus
- Van der Hoeve's Syndrome
- Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency
- Willems de vries syndrome