Biomaterial Database

Corneal changes in spondyloepiphyseal dysplasia tarda. 2000

Y Hirata, and H Watanabe, and N Maeda, and Y Inoue, and Y Shimomura, and Y Tano

Department of Ophthalmology, Osaka University Medical School, Suita, Japan.

BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). METHODS A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. METHODS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT. Slit-lamp examination disclosed a diffuse opacity in the central cornea in both eyes, which was localized in the middle to deep stroma. Dot opacities in the central and paracentral cornea were located in the middle of the stroma in both eyes. Optically clear regions were observed in the peripheral cornea of both eyes. More interestingly, corneal nerve fibers were visible passing from the limbus to the central cornea in both eyes. RESULTS The etiology of the corneal opacities of this patient with SEDT is unknown. However, collagen and proteoglycan abnormalities in the skin of patients with SEDT have been reported. Therefore, such abnormalities may also be present in the cornea and these alterations may lead to corneal complications.

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009412	Nerve Fibers	Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.	Cerebellar Mossy Fibers,Mossy Fibers, Cerebellar,Cerebellar Mossy Fiber,Mossy Fiber, Cerebellar,Nerve Fiber
D009882	Ophthalmic Nerve	A sensory branch of the trigeminal (5th cranial) nerve. The ophthalmic nerve carries general afferents from the superficial division of the face including the eyeball, conjunctiva, upper eyelid, upper nose, nasal mucosa, and scalp.	Nerve, Ophthalmic,Nerves, Ophthalmic,Ophthalmic Nerves
D010009	Osteochondrodysplasias	Abnormal development of cartilage and bone.	Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
D001767	Blinking	Brief closing of the eyelids by involuntary normal periodic closing, as a protective measure, or by voluntary action.	Orbicularis Oculi Reflex,Reflex, Blink,Reflex, Corneal,Reflex, Orbicularis Oculi,Winking,Blink Reflexes,Corneal Reflexes,Orbicularis Oculi Reflexes,Blink Reflex,Reflexes, Blink,Reflexes, Orbicularis Oculi
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D003318	Corneal Opacity	Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.	Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D018450	Disease Progression	The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.	Clinical Course,Clinical Progression,Disease Exacerbation,Exacerbation, Disease,Progression, Clinical,Progression, Disease