Meesmann juvenile epithelial corneal dystrophy

Meesmann juvenile epithelial corneal dystrophy: Meesmann juvenile epithelial corneal dystrophy

Classification and external resources

Multiple opaque spots in the corneal epithelium

ICD-9 371.51

OMIM 122100

DiseasesDB 31962

MeSH D053559

Meesmann juvenile epithelial corneal dystrophy (MECD, sometimes also Stocker-Holt dystrophy) is a keratin disease.

It is named for Alois Meesmann.^[1]^[2]

It is sometimes called "Meesmann-Wilke syndrome", after the joint contribution of Meesmann and Wilke.^[1]^[3]

It has been associated with KRT3 and KRT12.^[4]

References

^ ^a ^b synd/3139 at Who Named It?

^ A. Meesmann. Klinische und anatomische Untersuchungen über eine bisher unbekannte, dominant vererbte Dystrophia epithelialis corneae. Bericht der Deutschen ophthalmologischen Gesellschaft, Heidelberg, 1938, 52: 154-158.

^ A. Meesmann, F. Wilke. Klinische und anatomische Untersuchungen über eine bisher unbekannte, dominant vererbte Epithel Dystrophie der Horn haut. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1939, 103: 361-391.

^ Online 'Mendelian Inheritance in Man' (OMIM) 122100

v · d · eTypes of human corneal dystrophy (H18.5, 371.5)

Epithelial and Subepithelial
Epithelial basement membrane dystrophy (OMIM 121820), called a corneal dystrophy but in reality this condition is not inherited in the majority of cases, representing a non-specific reaction to a variety of corneal insults. · Subepithelial mucinous corneal dystrophy · Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy, OMIM 122100) · Lisch epithelial dystrophy · Gelatinous drop-like corneal dystrophy

Bowman layer
Reis-Bucklers corneal dystrophy (CDB1) aka. Granular corneal dystrophy type III · Thiel-Behnke dystrophy (CDB2)

Stroma
Lattice corneal dystrophy type I · Lattice corneal dystrophy type II · Granular corneal dystrophy type I · Granular corneal dystrophy type II · Also Granular corneal dystrophy type III see Reis-Bucklers corneal dystrophy above · Macular corneal dystrophy · Schnyder corneal dystrophy · Congenital stromal dystrophy (CSCD) · Fleck dystrophy · Posterior amorphous corneal dystrophy

Descemet membrane and Endothelial
Fuchs' dystrophy · Posterior polymorphous dystrophy type 1 · Posterior polymorphous dystrophy type 2 · Posterior polymorphous dystrophy type 3 · Congenital endothelial dystrophy type 1 (CHED1) · Congenital endothelial dystrophy type 2 (CHED2) · X-linked endothelial corneal dystrophy

M: EYE

anat(g/a/p)/phys/devp/prot

noco/cong/tumr, epon

proc, drug(S1A/1E/1F/1L)

v · d · eCytoskeletal defects

Microfilaments

Myofilament

Actin

Hypertrophic cardiomyopathy 11 · Dilated cardiomyopathy 1AA · DFNA20 · Nemaline myopathy 3

Myosin

Elejalde syndrome · Hypertrophic cardiomyopathy 1, 8, 10 · Usher syndrome 1B · Freeman–Sheldon syndrome · DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 · May-Hegglin anomaly

Troponin

Hypertrophic cardiomyopathy 7, 2 · Nemaline myopathy 4, 5

Tropomyosin

Hypertrophic cardiomyopathy 3 · Nemaline myopathy 1

Titin

Hypertrophic cardiomyopathy 9

Other

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

IF

1/2

Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures

3

Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I

GFAP: Alexander disease
Peripherin: Amyotrophic lateral sclerosis

4

Neurofilament: Parkinson's disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis

5

Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)

Microtubules

Kinesin

Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10

Dynein

Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3

Other

Tauopathy · Cavernous venous malformation

Membrane

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin
APC (Gardner's syndrome, Familial adenomatous polyposis) · plakoglobin (Naxos syndrome) · GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9
centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

v · d · eEye disease · pathology of the eye (H00–H59, 360–379)

Adnexa

eyelid: inflammation (Stye, Chalazion, Blepharitis) · Entropion · Ectropion · Lagophthalmos · Blepharochalasis · Ptosis · Blepharophimosis · Xanthelasma · eyelash (Trichiasis, Madarosis)

lacrimal system: Dacryoadenitis · Epiphora · Dacryocystitis · Xerophthalmia

orbit: Exophthalmos · Enophthalmos · Orbital cellulitis · Periorbital cellulitis

conjunctiva: Conjunctivitis (Allergic conjunctivitis) · Pterygium · Pinguecula · Subconjunctival hemorrhage

Globe

Fibrous tunic

sclera: Scleritis
cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis) · Corneal ulcer · Photokeratitis · Thygeson's superficial punctate keratopathy · Corneal dystrophy (Fuchs', Meesmann) · Keratoconus · Keratoconjunctivitis sicca · Keratoconjunctivitis · Corneal neovascularization · Kayser-Fleischer ring · Arcus senilis · Band keratopathy

Vascular tunic

Iris and ciliary body

Iritis · Uveitis (Intermediate uveitis) · Iridocyclitis · Hyphema · Rubeosis iridis · Persistent pupillary membrane · Iridodialysis · Synechia

Choroid

Choroideremia · Choroiditis (Chorioretinitis)

Lens

Cataract · Aphakia · Ectopia lentis

Retina

Retinitis (Chorioretinitis, Cytomegalovirus retinitis) · Retinal detachment · Retinoschisis · Ocular ischemic syndrome/Central retinal vein occlusion · Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) · Macular degeneration · Retinitis pigmentosa · Retinal haemorrhage · Central serous retinopathy · Macular edema · Epiretinal membrane · Macular pucker · Vitelliform macular dystrophy · Leber's congenital amaurosis · Birdshot chorioretinopathy

Other

Glaucoma/Ocular hypertension · Floater · Leber's hereditary optic neuropathy · Red eye · Keratomycosis · Phthisis bulbi

Pathways

Optic nerve and
optic disc

Optic neuritis · Papilledema (Foster Kennedy syndrome) · Optic atrophy/Optic neuropathy (Leber's hereditary optic neuropathy, Kjer's optic neuropathy) · Optic disc drusen · Toxic and nutritional optic neuropathy · Ischemic optic neuropathy (AION, PION)

Ocular muscles,
binocular movement,
accommodation

Paralytic strabismus

Ophthalmoparesis · Progressive external ophthalmoplegia · Palsy (III, IV, VI) · Kearns-Sayre syndrome

Other strabismus

Esotropia/Exotropia · Hypertropia · Heterophoria (Esophoria, Exophoria) · Brown's syndrome · Duane syndrome

Other binocular

Conjugate gaze palsy · Convergence insufficiency · Internuclear ophthalmoplegia · One and a half syndrome

Refraction

Refractive error: Hyperopia/Myopia · Astigmatism · Anisometropia/Aniseikonia · Presbyopia

Visual disturbances
and blindness

Amblyopia · Leber's congenital amaurosis · Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) · Diplopia · Scotoma · Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) · Color blindness (Achromatopsia, Dichromacy, Monochromacy) · Nyctalopia (Oguchi disease) · Blindness/Low vision

Pupil

Anisocoria · Argyll Robertson pupil · Marcus Gunn pupil · Adie syndrome · Miosis · Mydriasis · Cycloplegia · Parinaud's syndrome

Other

Nystagmus

Eye infections
Trachoma · Onchocerciasis

M: EYE

anat(g/a/p)/phys/devp/prot

noco/cong/tumr, epon

proc, drug(S1A/1E/1F/1L)

Categories:
Disorders of sclera and cornea
Cytoskeletal defects
Disease stubs

Meesmann juvenile epithelial corneal dystrophy
Classification and external resources
Multiple opaque spots in the corneal epithelium
ICD-9	371.51
OMIM	122100
DiseasesDB	31962
MeSH	D053559

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