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-danlos Syndrome]]
* [[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-dietz syndrome]],
|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 hoeve's syndrome
|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, ehlers-danlos syndrome, [[incontinentia pigmenti]], juvenile paget disease, [[laron dwarfism]], [[lobstein disease ]], loeys-dietz syndrome, [[marfan's syndrome ]], marshall-smith-weaver syndrome, metaphyseal chondrodysplasia, recessive type,  [[osteogenesis imperfecta]], paget disease juvenile type,  [[recurrent hereditary polyserositis]], willems de vries syndrome.
|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-blackfan anemia, [[hypophosphatasia]].         
|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-danlos syndrome , juvenile paget disease, [[lobstein disease ]], loeys-dietz syndrome, [[marfan's syndrome ]], marshall-smith-weaver syndrom metaphyseal chondrodysplasia, recessive type, [[osteogenesis imperfecta]], osteoporosis-pseudoglioma syndrome, paget disease juvenile type, 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="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, Osteoporosis-pseudoglioma syndrome, ray-peterson-scott syndrome.
|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-blackfan anemia, Ehlers-danlos syndrome, Grant syndrome,  [[hypophosphatasia]],  [[incontinentia pigmenti ]], [[Marfan's syndrome ]], metaphyseal chondrodysplasia, recessive type, [[osteogenesis imperfecta]], [[recurrent hereditary polyserositis]], Van der hoeve's syndrome, [[Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency ]].
|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"|         Chitayat-moore-del bigio syndrome
|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 -- hypotonia extremities hypertrophy
* Developmental delay hypotonia extremities hypertrophy
* Diamond-blackfan anemia
*[[Diamond-Blackfan anemia]]
* Ehlers-danlos syndrome
* [[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 paget disease
* Juvenile [[Paget's disease]]
*[[Laron dwarfism]]
*[[Laron dwarfism]]
*[[Lobstein disease ]]
*[[Lobstein disease ]]
* Loeys-dietz syndrome
*[[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>
* Metaphyseal chondrodysplasia, recessive type
* [[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  
* Paget disease juvenile type
* 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 hoeve's syndrome
*[[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

Blue sclera
Blue sclera in osteogenesis imperfecta.
Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

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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

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


References


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