Blue Sclera: Causes & Reasons

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Possible Causes for Blue Sclera

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]

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]

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]

Osteogenesis Imperfecta Type 15

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

sclerae which remain intensely blue throughout life, in contrast to the sclerae in OI type III and OI type IV which may also be blue at birth and during infancy. [edoj.org.eg]

sclera. [malacards.org]

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]

The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular [iovs.arvojournals.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]

Both eyes were phthisical, had blue sclera, and were soft to palpation. [jamanetwork.com]

Brittle Cornea Syndrome Type 2

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

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]

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

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]

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

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]

sclerae, pectus excavatum, dislocated lenses, aortic aneurysms and osteopenia, have each been clearly linked to nutritional deficiencies. [ctds.info]

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]

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]

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

On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. [ajnr.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]

Ehlers-Danlos Syndrome Musculocontractural Type 2

Syndrome Inguinal hernia Brachycephaly Downslanted palpebral fissures Telecanthus Arachnodactyly Patent foramen ovale Nervous System Disorders Congenital eye abnormality Blue [familydiagnosis.com]

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB [ukgtn.nhs.uk]

sclerae Adducted thumbs Talipes equinovarus • • • Back to: « Ehlers-Danlos syndrome, musculocontractural type 2 Back to: « Ehlers-Danlos syndrome Disease Articles Ehlers-Danlos [familydiagnosis.com]

Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed. [dog.org]

Like EDS patients and EDS-K patients in particular, they may also have blue sclerae, joint hypermobility, hyperelastic skin, and hearing loss. [forgottendiseases.org]

[…] appearing sclera (eyes) and severe muscle weakness. [checkorphan.org]

Ehlers-Danlos Syndrome Musculocontractural Type 1

[…] the duodenum ; Abnormality of the mouth ; Adducted thumb ; Arachnodactyly ; Arthrogryposis multiplex congenita ; Atrial septal defect ; Autosomal recessive inheritance ; Blue [mousephenotype.org]

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]

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB [ukgtn.nhs.uk]

Ehlers-Danlos Syndrome Periodontitis Type 1

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB [ukgtn.nhs.uk]

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]

sclerae, Gorlin's sign (tongue reaches nose), absence of lingual frenulum Ehlers-Danlos Syndrome (EDS) Type 2 (Mitis) AD, collagen 5. [quizlet.com]

Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

Diseases related with Short stature and Blue sclerae In the following list you will find some of the most common rare diseases related to Short stature and Blue sclerae that [mendelian.co]

sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone [flinders.edu.au]

It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. [orthopaedicweblinks.com]

Loeys-Dietz Syndrome Type 2

Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation [radiopaedia.org]

RESULTS: Patient 1 was a boy showing dysmorphic signs, blue sclerae, high-arched palate, bifid uvula; skeletal system involvement, joint hypermobility, velvety and translucent [uniprot.org]

[…] dissection 0004933 Ascending tubular aorta aneurysm Bulging of wall of large artery located above heart 0004970 Autosomal dominant inheritance 0000006 Bifid uvula 0000193 Blue [rarediseases.info.nih.gov]

Loeys-Dietz Syndrome Type 1

Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation [radiopaedia.org]

sclerae. [cancertherapyadvisor.com]

On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. [ajnr.org]

Roberts Syndrome

Microcephaly and mental retardation can be associated with other craniofacial anomalies (craniosynostosis hydrocephalus, encephalocele, blue sclerae, exophthalmia, and cleft [accessanesthesiology.mhmedical.com]

In some children, the whites of the eyes may be blue (blue sclera) and increased pressure within the eyeball (glaucoma) may also be present. [rarediseases.org]

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]

Ehlers-Danlos Syndrome Spondylodysplastic Type 2

In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those [ojrd.biomedcentral.com]

sclerae, abnormal teeth, and cleft palate /bifid uvula) Thin, curly hair; sparse eyebrows and eyelashes Joint contractures and hypermobility Loose, elastic skin on the face [rarediseases.info.nih.gov]

sclerae Whites of eyes are a bluish-gray color 0000592 Cleft palate Cleft roof of mouth 0000175 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Hypertelorism [rarediseases.info.nih.gov]

Scleromalacia

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]

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

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]

Ehlers-Danlos Syndrome Spondylodysplastic Type 3

In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those [ojrd.biomedcentral.com]

The clinical features include redundant, sagging, fragile skin, delayed closure of the fontanelles, blue sclerae, umbilical hernia and short stature. 24 Most patients have [adc.bmj.com]

sclerae Very Common - Between 80% and 100% cases Abnormality of the metaphysis Very Common - Between 80% and 100% cases Thin skin Very Common - Between 80% and 100% cases [mendelian.co]

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]

sclerae Whites of eyes are a bluish-gray color 0000592 Cerebral calcification Abnormal deposits of calcium in the brain 0002514 Dilatation Wider than typical opening or gap [rarediseases.info.nih.gov]

• 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]

Iron Deficiency Anemia

Abstract Ankaferd Blood Stopper (ABS) comprises a mixture of plants and stops bleeding via forming a protein network by erythroid aggregation. Bleeding causes reduction of iron levels in body. It has been indicated that ABS contains significant amount of iron. Thus, we investigated the biological activity of[…] [ncbi.nlm.nih.gov]

Rheumatoid Arthritis

Rheumatoid arthritis is a chronic systemic inflammatory disease. It may affect many tissues and organs and any joint lined by a synovial membrane may be involved. The active disease presents itself as fatigue, loss of appetite, muscle and joint pain and stiffness. The muscle pain is more prominent in the mornings[…] [symptoma.com]

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]

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]

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]

Delayed nail growth and blue sclerae may also be present. [symptoma.com]

Osteogenesis Imperfecta Type 5

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]

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

OI was diagnosed after the classical signs appeared (bone fractures and blue sclerae). [jocr.co.in]