Blue-sclera: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for blue sclera

Iron Deficiency Anemia

INTRODUCTION Iron deficiency anemia (IDA) is a common complication in routine clinical practice that frequently originates in the gastrointestinal (GI) tract[ 1 - 3 ]. Patients with IDA are therefore often referred to gastroenterologists for further examination and/or treatment. IDA associated with GI disorders can[…] [dx.doi.org]

Marfan Syndrome

Keywords: Aortic root dilatation, blue sclera, enophthalmos, Neonatal Marfan Syndrome How to cite this article: Bhutia E, Kumar P, Kishore S, Yadav DK. [jcnonweb.com]

sclera, Chiari malformations, and club feet. [acc.org]

LDS patients may also have widely spaced eyes, cleft palate, blue sclerae, and type 1 Chiari malformations (in which a portion of the cerebellum descends out of the skull [forgottendiseases.org]

Rheumatoid Arthritis

Please log in to edit this article. Edit Synonym: chronic polyarthritis (CP) Lay term: rheumatism German : Rheumatoide Arthritis 1 Definition Rheumatoid arthritis is a chronic inflammation system disease, which occurs in the interior skin ( synovium ), of a joint and causes a clinical picture of a polyarthritis.[…] [flexikon.doccheck.com]

Osteogenesis Imperfecta

Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. [ncbi.nlm.nih.gov]

The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years. [ncbi.nlm.nih.gov]

sclerae, Adair-Dighton syndrome, Mild osteogenesis imperfecta, Non-deforming osteogenesis imperfecta, Van der Hoeve syndrome, Classic non-deforming OI with blue sclerae Osteogenesis [rarediseases.info.nih.gov]

Hallermann-Streiff Syndrome

Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy. [aaopt.org]

Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients. [disorders.eyes.arizona.edu]

Ophthalmic features are microphthalmia, congenital cataracts, blue sclerae and nystagmus. [jpgmonline.com]

Osteogenesis Imperfecta Type 15

Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. [malacards.org]

sclerae and wormian bones but without fractures Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma syndrome [rgd.mcw.edu]

sclerae, death for respiratory insufficiency and pneumonias. [iofbonehealth.org]

Crouzon Syndrome

Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis. [casereports.bmj.com]

There also have been rare occurances of nystagmus, iris coloboma, aniridia, anisocoria, microcornea, megalocornea, cataract, ectopia lentis, blue sclera, glaucoma and luxation [scialert.net]

There rarely may occur nystagmus, coloboma of the iris, anisocoria, microcornea or megalocornea, cataract, blue sclerae, glaucoma and globe luxation (6). [arquivosdeorl.org.br]

Pseudoxanthoma Elasticum

• Other ocular findings: blue sclera Classification • Dominant type 1, which contains cutaneous changes and the skin becomes thin, delicate and bruises easily. [eyewiki.aao.org]

• Dominant type 2, which is characterised by atypical, yellowish, flatter skin papules than in dominant type 1, skin hyperelasticity, mild angioid streaks and blue sclera [eyewiki.aao.org]

sclera: • Osteogenesis imperfecta • Ehlers-Danlos syndrome (type VI) • Cornea plana, peripheral sclerocornea, buphthalmos, keratoconus, keratoglobus, high myopia, ciliary [eyewiki.aao.org]

Brittle Cornea Syndrome Type 1

A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. [ncbi.nlm.nih.gov]

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). [bjo.bmj.com]

We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae [ncbi.nlm.nih.gov]

Brittle Cornea Syndrome Type 2

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). [bjo.bmj.com]

sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints. [zora.uzh.ch]

Arkin W (1964) Blue scleras with keratoglobus. Am J Ophthalmol 58: 678–682 Google Scholar 2. Attiah MAH, Sobhy Bey M (1931) Blue sclerotis. [link.springer.com]

Dermatosparaxis

He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation. [ncbi.nlm.nih.gov]

Conclusions: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae [jamanetwork.com]

The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability [ncbi.nlm.nih.gov]

Goldberg-Shprintzen Syndrome

He had dense eyebrows with mild synophrys, a broad nasal bridge, low set ears, and large corneae (corneal diameter 14.5 mm) with blue sclerae. [jmg.bmj.com]

Dysmorphological evaluation at 5 years (fig 2 ) showed high arched eyebrows, dense curled eyelashes, a broad nasal bridge, blue sclerae, large corneae (corneal diameter 13.5 [jmg.bmj.com]

sclerae Exotropia Craniosynostosis Cervical spine instability Talipes equinovarus Soft and velvety skin Translucent skin Easy bruising Generalized arterial tortuosity and [medicinman.cz]

Keratoglobus

Patients with keratoglobus and blue sclera as part of a generalized connective tissue disorder are at a high risk of developing corneal perforations either spontaneously or [ncbi.nlm.nih.gov]

Five patients from two families had similar features including keratoglobus, blue scleras, hyperextensibility of the hand, wrist, and ankle joints, sensorineural conduction [ncbi.nlm.nih.gov]

Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera. [ncbi.nlm.nih.gov]

Scleromalacia

[…] of the sclera in her left eye. [mejfm.com]

CONGENITAL MELANOSIS OCULI: Melanosis oculi (ocular melanocytosis) is congential blue nevus of the episclera and sclera associated with increased pigmentation of the uveal [visioncareindia.com]

Scleromalacia perforans is a rare form of anterior scleritis which readily presents as a blackish blue hue visible through a thin sclera [ 3 ]. [ncbi.nlm.nih.gov]

Marshall-Smith Syndrome

sclerae, depressed nasal bridge, and micrognathia. [ncbi.nlm.nih.gov]

Clinical description The disorder associates several dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia. [orpha.net]

[…] accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue [ncbi.nlm.nih.gov]

Ehlers-Danlos Syndrome

sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile [uwcpdx.org]

Other eye symptoms may include nearsightedness ( myopia ), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. [rarediseases.info.nih.gov]

Blue sclera. Thin, translucient, fragile skin. Easy bruising. Pes planus. Recurrent joint dislocation.Chronic joint pains. Easy brushing. Varicose veins. [laeknabladid.is]

Orthostatic Syncope

Sclerae are blue. The skull is soft and, when palpated, feels like a bag of bones. [msdmanuals.com]

Blue sclerae is an important sign caused by scleral thinness allowing the pigmented coat of the choroid to become visible. [patient.info]

Patients with this condition have had short stature, blue or white sclerae, and normal hearing. [emedicine.medscape.com]

Osteogenesis Imperfecta Type 2

The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal [medicinenet.com]

On exam, her sclera are blue. [medbullets.com]

Affected individuals exhibit short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclera, whites of the eyes, small nose, low nasal bridge [writerightmel.wordpress.com]

Osteogenesis Imperfecta Type 16

Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form. [malacards.org]

Short stature, blue sclerae and dentinogenesis imperfecta (DI) Sometimes, the evaluation for OI in childhood is prompted by recognition of blue sclerae, conductive hearing [nature.com]

[…] in the perinatal period Numerous fractures and severe bone deformity Length and weight SGA Head large for body size Usually blue-gray sclera Markedly reduced ossification [en.wikibooks.org]

Osteogenesis Imperfecta Type 13

Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. [malacards.org]

On examination, she had a blue-grey sclera, small thorax, relatively large cranium, and disproportionately short and curved limbs. [kenkyugroup.org]

sclera, deafness) Blue sclera Q13.5 ICD-10-CM Diagnosis Code Q13.5 Blue sclera 2016 2017 2018 2019 Billable/Specific Code POA Exempt with fragility of bone and deafness Q78.0 [icd10data.com]

Osteogenesis Imperfecta Type 5

Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. [malacards.org]

Diagnosis - Osteogenesis imperfecta- type 5 Family history and characteristic features, such as blue sclerae or deafness, establish the diagnosis. [checkorphan.org]

Osteogenesis Imperfecta Type 3

[…] in the perinatal period Numerous fractures and severe bone deformity Length and weight SGA Head large for body size Usually blue-gray sclera Markedly reduced ossification [en.wikibooks.org]

The classic symptoms include: blue tint to the whites of the eyes (blue sclera) multiple bone fractures - the frequency of fractures may increase in adolescence early hearing [focusondisability.org.uk]

Diagnosis - Osteogenesis imperfecta- type 3 Family history and characteristic features, such as blue sclerae or deafness, establish the diagnosis. [checkorphan.org]

Cole-Carpenter Syndrome

In addition, these patients also had proptosis, blue sclerae, hydrocephalus, and a distinct facial gestalt. They were reported to be of normal intelligence. [ncbi.nlm.nih.gov]

sclera. [dovemed.com]

sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, [malacards.org]

Bruck Syndrome

He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. [ncbi.nlm.nih.gov]

In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposis with [ochsnerjournal.org]

A 10-year-old girl was referred with blue sclera, osteopenia, poorly-healing fragility fractures, Wormian skull bones, cleft soft palate, congenital fusion of cervical vertebrae [profiles.wustl.edu]

Wiedemann-Rautenstrauch Syndrome

Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia [icd10data.com]

sclerae Whites of eyes are a bluish-gray color 0000592 Congenital malformation of the left heart 0045017 Dysplastic pulmonary valve 0005164 Hyperthyroidism Overactive thyroid [rarediseases.info.nih.gov]

He had alo-pecia of eyebrows and eyelashes, blue scleras, low-set androtated ears, thin lips, and down-slanting mouth angles.Four teeth were observed at delivery, 2 yellowish [docslide.com.br]

Laron Syndrome

It is characterized by short stature, blue sclerae, hip degeneration, and delayed bone age. [accessanesthesiology.mhmedical.com]

Patients occasionally have blue sclera and hip degeneration. Etiology The disease is due to mutations in the GHR gene (5p14-p12). [orpha.net]

No teething defects were found, and no blue sclera was observed ( Figure 1 ). [alliedacademies.org]

Rathbun Syndrome

Hypophosphatasia (HPP) is an ultra-rare, genetic, metabolic, bone and tooth disorder. Although first reported in English medical literature by Dr. Bruce Chown of Manitoba in 1936, HPP was known for many years as RathbunΓÇÖs Syndrome, due to it being recognized and named by Dr. J.C. Rathbun of Ontario, in 1948.[…] [softbonescanada.ca]

Kabuki Syndrome

sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral [ncbi.nlm.nih.gov]

Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin [ncbi.nlm.nih.gov]

[…] among patients but may include: Long eyelashes, depressed nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue [en.wikipedia.org]

Onychia

Sclerae are blue. The skull is soft and, when palpated, feels like a bag of bones. [msdmanuals.com]

Blue sclerae is an important sign caused by scleral thinness allowing the pigmented coat of the choroid to become visible. [patient.info]

Patients with this condition have had short stature, blue or white sclerae, and normal hearing. [emedicine.medscape.com]

Chondrodystrophy

We have described a previously unrecognized chondrodystrophy characterized by short-limbed dwarfism, blue sclera, severe cardiopulmonary problems, and failure of postnatal [ncbi.nlm.nih.gov]

In classic non-deforming osteogenesis Imperfecta with blue sclerae or common variable osteogenesis Imperfecta with normal sclerae, nearly 60% of cases are de novo. [en.wikipedia.org]

Classic non-deforming OI with blue sclerae (previously OI type I) is characterized by blue sclerae and normal stature. [ncbi.nlm.nih.gov]