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554 Possible Causes for Blue Sclera, Ectopia Lentis

  • Marfan Syndrome

    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] We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] Unique features can include widely spaced eyes, broad or bifid uvula, cleft palate, hydrocephalus (rare), Chiari I malformation, blue sclerae, exotropia, craniosynostosis,[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    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] […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] Other clinical manifestations of Marfan syndrome such as ectopia lentis, aortic aneurysm formation and skeletal features may also be seen in ectopia lentis syndrome, bicuspid[rwjbh.org]

  • 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] Associated findings include anterior megalophthalmos, enlarged ciliary ring with zonular stretching (leading to phacodonesis), ectopia lentis, iridodonesis, iris stromal hypoplasia[medical-dictionary.thefreedictionary.com] Keratoconus may be associated with : Ocular conditions e.g. ectopia lentis, congenital cataract, aniridia, retinitis pigmentosa, and vernal keratoconjunctivitis (VKC).[ophthalmologylife.blogspot.com]

  • 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] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia,[malacards.org]

  • Isolated Congenital Sclerocornea

    BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as fragilitas oculi with joint hyperextensibility, corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility, dysgenesis[mendelian.co] lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]

  • Blue Sclera

    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] Ectopia lentis and blue sclera in hyperhomocysteinaemia.[nmji.in] 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]

  • Ectopia Lentis

    Ectopia lentis and blue sclera in hyperhomocysteinaemia.[nmji.in] Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] There was an additional patch of blue discoloration of the sclera without uveal ectasia in the left eye [Figure 1] b.[nmji.in]

  • 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]

  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    Most cases have blue or gray sclerae, with a developmental hearing loss in about 50% of patients.[radiologykey.com] […] score 7 4) Ectopia lentis FBN1 mutation known to cause aortic root dilatation Criteria for dx of Marfan's with a positive family history 1) Ectopia lentis 2) Systemic score[quizlet.com] Blue, sometimes gray, sclerae are an important sign in many forms of OI ( 24 ). They can be a normal finding in early infancy, when the sclerae are normally quite thin.[radiologykey.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 condition may be associated with osteogenesis imperfecta, ectopia lentis, aniridia, retinitis pigmentosa, Down's syndrome, Ehlers-Danlos syndrome, Marfan's syndrome.[medical-dictionary.thefreedictionary.com] 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]

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