Microphthalmia, and Corneal dystrophy

Diseases related with Microphthalmia and Corneal dystrophy

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


Top matches:

Low match ISOLATED CONGENITAL MEGALOCORNEA


Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.

ISOLATED CONGENITAL MEGALOCORNEA Is also known as congenital anterior megalophthalmia|mgcn

Related symptoms:

  • Cataract
  • Visual loss
  • Glaucoma
  • Photophobia
  • Congenital cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CONGENITAL MEGALOCORNEA

Low match CATARACT 23, MULTIPLE TYPES; CTRCT23


Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.

CATARACT 23, MULTIPLE TYPES; CTRCT23 Is also known as cataract 23, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Nuclear cataract
  • Lamellar cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 23, MULTIPLE TYPES; CTRCT23

Low match CATARACT 1, MULTIPLE TYPES; CTRCT1


Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.

CATARACT 1, MULTIPLE TYPES; CTRCT1 Is also known as cataract 1, multiple types, with or without microcornea|czp1|czp|cae1|cataract, duffy-linked|cataract, zonular pulverulent, 1

Related symptoms:

  • Cataract
  • Microphthalmia
  • Congenital cataract
  • Microcornea
  • Posterior subcapsular cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 1, MULTIPLE TYPES; CTRCT1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match COLOBOMATOUS MICROPHTHALMIA


Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

COLOBOMATOUS MICROPHTHALMIA Is also known as mac|microphthalmia, colobomatous, isolated 1|microphthalmia-anophthalmia-coloboma syndrome|microphthalmia with colobomatous cyst

Related symptoms:

  • Microphthalmia
  • Coloboma
  • Microcornea
  • Anophthalmia
  • Increased intraocular pressure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA

Low match MICROPHTHALMIA, ISOLATED 1; MCOP1


Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated|microphthalmos, autosomal recessive|mcop

Related symptoms:

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

Low match COLOBOMA OF OPTIC NERVE


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA OF OPTIC NERVE

Low match CATARACT 3, MULTIPLE TYPES; CTRCT3


Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.

CATARACT 3, MULTIPLE TYPES; CTRCT3 Is also known as cataract 3, multiple types, with or without microcornea|cataract, congenital, cerulean type, 2|cca2

Related symptoms:

  • Cataract
  • Visual impairment
  • Microphthalmia
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MENDELIAN

More info about CATARACT 3, MULTIPLE TYPES; CTRCT3

Low match JUVENILE CATARACT-MICROCORNEA-RENAL GLUCOSURIA SYNDROME


Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.

JUVENILE CATARACT-MICROCORNEA-RENAL GLUCOSURIA SYNDROME Is also known as cjmg, formerly|cataract, juvenile, with microcornea and glucosuria, formerly|cataract, juvenile, with microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Glycosuria
  • Juvenile cataract


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE CATARACT-MICROCORNEA-RENAL GLUCOSURIA SYNDROME

Low match MICROPHTHALMIA, ISOLATED 3; MCOP3


Related symptoms:

  • Microphthalmia
  • Retinal detachment
  • Anophthalmia
  • Sclerocornea
  • Ankyloblepharon


SOURCES: OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 3; MCOP3

Low match ISOLATED CONGENITAL SCLEROCORNEA


Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).

Related symptoms:

  • Nystagmus
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Esotropia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED CONGENITAL SCLEROCORNEA

Top 5 symptoms//phenotypes associated to Microphthalmia and Corneal dystrophy

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Microcornea Common - Between 50% and 80% cases
Coloboma Uncommon - Between 30% and 50% cases
Sclerocornea Uncommon - Between 30% and 50% cases
Anophthalmia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Microphthalmia and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinal detachment Glaucoma Congenital cataract

Rare Symptoms - Less than 30% cases


Corneal degeneration Amblyopia Nuclear cataract Increased intraocular pressure Hypermetropia High hypermetropia Posterior embryotoxon Corneal neovascularization Scleral staphyloma Anterior staphyloma Nystagmus Optic nerve coloboma Visual impairment Esotropia Cerulean cataract Sutural cataract Glycosuria Juvenile cataract Ankyloblepharon Remnants of the hyaloid vascular system Subcapsular cataract Lamellar cataract Nuclear pulverulent cataract Abnormally large globe Photophobia Astigmatism Overgrowth Congenital glaucoma Keratoconus Megalocornea Hypoplasia of the iris Miosis Zonular cataract Corneal arcus Lens subluxation Iridodonesis Increased corneal thickness Deep anterior chamber Mosaic corneal dystrophy Visual loss Posterior subcapsular cataract Pulverulent cataract Flat cornea



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Blue sclerae, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more