Cataract, and Myopia

Diseases related with Cataract and Myopia

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


Top matches:

Medium match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match CATARACT 42; CTRCT42


Related symptoms:

  • Cataract
  • Myopia
  • Glaucoma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 42; CTRCT42

Low match MYOPIA 22, AUTOSOMAL DOMINANT; MYP22


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Related symptoms:

  • Cataract
  • Myopia
  • Visual loss
  • Reduced visual acuity
  • High myopia


SOURCES: OMIM MENDELIAN

More info about MYOPIA 22, AUTOSOMAL DOMINANT; MYP22

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Other less relevant matches:

Low match CATARACT 12, MULTIPLE TYPES; CTRCT12


Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.

Related symptoms:

  • Cataract
  • Myopia
  • Reduced visual acuity
  • Congenital cataract
  • High myopia


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 12, MULTIPLE TYPES; CTRCT12

Low match CATARACT 16, MULTIPLE TYPES; CTRCT16


Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'

CATARACT 16, MULTIPLE TYPES; CTRCT16 Is also known as cataract, posterior polar, 2|cataract, congenital lamellar|ctpp2

Related symptoms:

  • Cataract
  • Myopia
  • Congenital cataract
  • Retinal dystrophy
  • Retinal detachment


SOURCES: OMIM MENDELIAN

More info about CATARACT 16, MULTIPLE TYPES; CTRCT16

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Low match EXUDATIVE VITREORETINOPATHY 6; EVR6


Related symptoms:

  • Cataract
  • Myopia
  • Retinal detachment
  • Progressive visual loss
  • Chorioretinal atrophy


SOURCES: OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 6; EVR6

Low match EDICT SYNDROME


EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.

EDICT SYNDROME Is also known as endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|familial keratoconus with cataract|keratoconus, familial, with early-onset anterior polar cataract|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal

Related symptoms:

  • Cataract
  • Myopia
  • Reduced visual acuity
  • Corneal opacity
  • Congenital cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about EDICT SYNDROME

Low match CATARACT 6, MULTIPLE TYPES; CTRCT6


Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.

CATARACT 6, MULTIPLE TYPES; CTRCT6 Is also known as cataract, age-related cortical, 2|cataract, posterior polar, 1|ctpp1|arcc2

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Myopia
  • Glaucoma


SOURCES: OMIM MENDELIAN

More info about CATARACT 6, MULTIPLE TYPES; CTRCT6

Top 5 symptoms//phenotypes associated to Cataract and Myopia

Symptoms // Phenotype % cases
Congenital cataract Uncommon - Between 30% and 50% cases
High myopia Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
Corneal opacity Uncommon - Between 30% and 50% cases
Aphakia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Reduced visual acuity Polar cataract

Rare Symptoms - Less than 30% cases


Posterior polar cataract Vitreoretinopathy Nystagmus Posterior lenticonus Lenticonus Amblyopia Glaucoma Cortical cataract Microcornea Peripheral vitreoretinal degeneration Astigmatism Ectropion Hypoplasia of the iris Axial myopia Lens coloboma Epiretinal membrane Keratoconus Sensorineural hearing impairment Ectopia pupillae Anterior segment developmental abnormality Coloboma Abnormal cornea morphology Anterior polar cataract Strabismus Esotropia Exotropia Subcapsular cataract Lens subluxation Chorioretinal atrophy Blindness Corneal dystrophy Retinopathy Abnormal vitreous humor morphology Visual loss Sutural cataract Progressive cataract Retinal dystrophy Iris coloboma Progressive visual loss Visual impairment Cleft palate Retinal fold Exudative vitreoretinopathy Retinal exudate Tractional retinal detachment Posterior vitreous detachment Falciform retinal fold Choroideremia



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