Biomaterial Database

Ocular abnormality in myotonic dystrophy. 1978

J Ginsberg, and J Hamblet, and M Menefee

A 61-year-old white woman with terminal myotonic dystrophy exhibited advanced peripheral and central retinopathy. Retinal lesions were characterized by hyperpigmentation, common, though nonspecific, in myotonic dystrophy. They resemble both heredo (tapetoretinal) and idiopathic involutional degenerations but rarely cause severe visual impairment. Neither the type nor degree of retinopathy appears to correlate with other ocular features or with the stage of the underlying disease. Our histologic observations confirm and extend those previously described. Electron microscopy suggests a primary disorder of mitochondria which may also affect smooth muscle and the myocardium.

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D008931	Mitochondria, Muscle	Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.	Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D009223	Myotonic Dystrophy	Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.	Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker
D009801	Oculomotor Muscles	The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.	Extraocular Muscles,Extraocular Rectus Muscles,Inferior Oblique Extraocular Muscle,Inferior Oblique Muscles,Levator Palpebrae Superioris,Musculus Orbitalis,Oblique Extraocular Muscles,Oblique Muscle, Inferior,Oblique Muscle, Superior,Oblique Muscles, Extraocular,Rectus Muscles, Extraocular,Superior Oblique Extraocular Muscle,Superior Oblique Muscle,Extraocular Muscle,Extraocular Muscle, Oblique,Extraocular Muscles, Oblique,Extraocular Oblique Muscle,Extraocular Oblique Muscles,Extraocular Rectus Muscle,Inferior Oblique Muscle,Muscle, Oculomotor,Muscles, Oculomotor,Oblique Extraocular Muscle,Oblique Muscle, Extraocular,Oblique Muscles, Inferior,Oblique Muscles, Superior,Oculomotor Muscle,Rectus Muscle, Extraocular,Superior Oblique Muscles
D010857	Pigment Epithelium of Eye	The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.	Eye Pigment Epithelium
D012160	Retina	The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.	Ora Serrata
D012162	Retinal Degeneration	A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)	Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D002829	Choroid	The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.	Choriocapillaris,Haller Layer,Haller's Layer,Sattler Layer,Sattler's Layer,Choroids
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
D005260	Female		Females