blue sclera.pptx
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you can get information about the blue sclera, its causes, its associations, its relation to other disorders and syndromes. its associations such as Osteogenesis imperfecta and Ehlers-Danlos syndrome type VI are mostly explained with their images in these slides.
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The document summarizes various eyelid pathologies and abnormalities. It describes the functions of the eyelid and then discusses several congenital and acquired eyelid conditions, including entropion, ectropion, blepharoptosis, hordeolum, chalazion, and molluscum contagiosum. It also covers disorders of eyelid position, inflammation, and other eyelid lumps and abnormalities. In summary, the document provides an overview of the structure and function of the eyelid and defines several common eyelid diseases and defects.
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Osteogenesis imperfecta
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The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
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This patient presented with congenital hypoparathyroidism and seizures at 2 months of age. He had severe growth retardation and characteristic facial dysmorphisms including prominent forehead, deep set eyes, microcephaly, thin upper lip, beaked nose, and small hands and feet. Based on these findings he was diagnosed with Sanjad-Sakati Syndrome, a rare autosomal recessive condition characterized by hypoparathyroidism, severe growth issues, intellectual disability, and specific facial features.
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Corneal dystrophies are a group of rare hereditary eye disorders characterized by the abnormal deposition of materials in the cornea. They are usually progressive and inherited, with symptoms including clouding or lines in the cornea affecting vision to varying degrees. Different types are caused by mutations in specific genes and affect different layers of the cornea. Diagnosis is based on clinical presentation and may include genetic testing. Treatment ranges from observation for mild cases to surgical procedures like corneal transplantation for more severe cases.
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This document discusses several developmental anomalies of the face and jaws, including cleft lip and palate, Crouzon syndrome, hemifacial microsomia, and Treacher Collins syndrome. Cleft lip and palate are the most common craniofacial anomalies, resulting from a failure of fusion during fetal development. Crouzon syndrome is characterized by premature fusion of cranial sutures, resulting in a short skull and facial abnormalities. Hemifacial microsomia displays reduced growth on half of the face, while Treacher Collins syndrome involves underdevelopment of the zygomatic bones and mandible.
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This document discusses iridocorneal endothelial syndrome (ICE), a rare disorder involving the corneal endothelium and iris. There are three clinical variants: Chandler syndrome, essential/progressive iris atrophy, and iris nevus/Cogan-Reese syndrome. The pathophysiology involves transformation of endothelial cells into migratory epithelial-like cells, resulting in corneal edema, iris changes, and secondary glaucoma. Diagnosis involves examining the cornea for edema and irregularity, the iris for atrophy or nodules, and gonioscopy for peripheral anterior synechiae. Specular microscopy can also reveal characteristic endothelial cell changes.
Diseases of skin 6 / dental implant courses by Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
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- 2. Blue sclera By Anam Sehreen Doctor of optometry
- 3. Blue Sclera It is an asymptomatic condition characterized by marked, generalized blue discoloration of sclera due to thinning or transparency of sclera which results into visualization of the underlying uvea.
- 5. Associations Blue sclera is a typical association of osteogenesis imperfecta. Its rare associations include: Marshall–Smith syndrome (accelerated prenatal skeletal maturation and growth) Russell–Silver syndrome (short stature and other features) Hallermann–Streiff–François syndrome
- 6. Associations or causes Most associations or causes include: ◦ Osteogenesis imperfecta ◦ Marfan's syndrome ◦ Ehlers-Danlos syndrome ◦ Buphthalmos ◦ High myopia ◦ Healed scleritis ◦ Pseudoxanthoma elasticum
- 7. Osteogenesis imperfecta It is an inherited disease of connective tissue, usually caused by defects in the synthesis and structure of type 1 collagen.
- 11. Types There are multiple types, at least two of which have ocular features: Type I It is autosomal dominant. Patients suffer few fractures with little or no deformity, hyperextensible joints, dental hypoplasia, deafness and easy bruising. Possible ocular features include blue sclera, megalocornea and corneal arcus.
- 12. Types Type IIA It is either sporadic or inherited in an autosomal dominant manner. Systemic features include deafness, dental anomalies, multiple fractures and short limbs, with death in infancy from respiratory infection. Ocular manifestations include blue sclera and shallow orbits.
- 13. Ehlers-Danlos syndrome In it the ocular features are subluxation of lens and blue sclera. The systemic features include hyperextensibility of joints and loose skin with folds.
- 14. Ehlers-Danlos syndrome type VI Ehlers–Danlos syndrome type VI (ocular sclerotic) is an inherited disorder of collagen formation. Patients have thin and hyper-elastic skin that bruises easily and heals slowly; joints are hypermobile, which may lead to recurrent dislocation and falls.
- 18. Ehlers-Danlos syndrome type VI Cardiovascular disease can be severe, including a: o Bleeding diathesis o Dissecting aneurysms o Spontaneous rupture of large blood vessels o Mitral valve prolapse
- 19. Types There are 6 major types but type VI and, rarely, type IV, are associated with ocular features and blue sclera, these may include: o Scleral fragility (globe rupture may be caused by mild trauma) o Epicanthic folds o Microcornea
- 20. Types o Keratoconus o Keratoglobus o Ectopia lentis o Myopia o Retinal detachment