Edema, and Corneal opacity

Diseases related with Edema and Corneal opacity

In the following list you will find some of the most common rare diseases related to Edema and Corneal opacity that can help you solving undiagnosed cases.

Top matches:

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

Other less relevant matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Patients with ASGD6 have been reported with the Peters anomaly subtype.Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001).

Related symptoms:

  • Edema
  • Glaucoma
  • Corneal opacity
  • Opacification of the corneal stroma
  • Ectopia lentis


SOURCES: OMIM MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 6; ASGD6

Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.

CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE II Is also known as autosomal recessive congenital hereditary endothelial dystrophy|congenital hereditary endothelial dystrophy type 2|congenital hereditary endothelial dystrophy of cornea|autosomal recessive ched|maumenee corneal dystrophy|infantile hereditary endothelial d

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Edema
  • Photophobia
  • Corneal opacity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE II

Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006).Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (OMIM ). Genetic Heterogeneity of KeratoconusAlso see KTCN2 (OMIM ), mapped to 16q22.3-q23.1; KTCN3 (OMIM ), mapped to 3p14-q13; KTCN4 (OMIM ), mapped to 2p24; KTCN5 (OMIM ), mapped to 5q14.1-q21.3; KTCN6 (OMIM ), mapped to 9q34; KTCN7 (OMIM ), mapped to 13q32; KTCN8 (OMIM ), mapped to 14q24; and KTCN9 (OMIM ), caused by mutation in the TUBA3D gene (OMIM ) on 2q21.

Related symptoms:

  • Visual impairment
  • Myopia
  • Edema
  • Scarring
  • Astigmatism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KERATOCONUS 1; KTCN1

Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).

KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH Is also known as keratitis fugax hereditaria

Related symptoms:

  • Pain
  • Edema
  • Photophobia
  • Corneal opacity
  • Opacification of the corneal stroma


SOURCES: MESH OMIM MENDELIAN

More info about KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster

Related symptoms:

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Top 5 symptoms//phenotypes associated to Edema and Corneal opacity

Symptoms // Phenotype % cases
Corneal dystrophy Common - Between 50% and 80% cases
Opacification of the corneal stroma Uncommon - Between 30% and 50% cases
Epiphora Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Photophobia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Corneal opacity. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Keratitis Abnormal Descemet membrane morphology Anterior synechiae of the anterior chamber Ectopia pupillae Keratoconus Reduced visual acuity Glaucoma Coarse facial features Peripheral axonal neuropathy Polyneuropathy Thick vermilion border Distal sensory impairment Vertigo Intellectual disability, mild Hyperkeratosis Dry skin Abnormality of the cerebral white matter Cerebral atrophy Papule Distal muscle weakness Bilateral sensorineural hearing impairment Abnormality of the eye Aminoaciduria Cardiomegaly Motor polyneuropathy White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Increased urinary O-linked sialopeptides Lip telangiectasia Angiokeratoma corporis diffusum Angiokeratoma Progressive distal muscle weakness Abnormality of the periventricular white matter Thick lower lip vermilion Telangiectasia of the skin Axonal degeneration Tinnitus Depressed nasal bridge Lymphedema Telangiectasia Subcutaneous nodule Peripheral neuropathy Corneal stromal edema Cognitive impairment Polycoria Astigmatism Scarring Myopia Congenital corneal dystrophy Nystagmus Posterior synechiae of the anterior chamber Anterior segment developmental abnormality Allergy Peters anomaly Corneal neovascularization Hypoplasia of the iris Posterior embryotoxon Aniridia Congenital glaucoma Ectopia lentis Eosinophilia Corneal scarring Muscle weakness Iris atrophy Sensorineural hearing impairment Hearing impairment Polymorphous posterior corneal dystrophy Uveal ectropion Thinning of Descemet membrane Band keratopathy Increased intraocular pressure Irregular astigmatism Ectropion Overgrowth Falls Conjunctival hyperemia Ocular pain Blurred vision Pain Telangiectasia of the oral mucosa


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