Blue sclera

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

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

References

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