Cataract, and Strabismus

Diseases related with Cataract and Strabismus

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

Top matches:

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME Is also known as o'donnell-pappas syndrome

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Optic atrophy
  • Abnormality of the eye


SOURCES: MESH ORPHANET MENDELIAN

More info about FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME

Other less relevant matches:

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.

GRANULAR CORNEAL DYSTROPHY TYPE I Is also known as classic gcd|corneal dystrophy groenouw type i|gcd1|granular corneal dystrophy, type i|granular corneal dystrophy type 1|gcdi|corneal dystrophy, punctate or nodular|classic granular corneal dystrophy

Related symptoms:

  • Strabismus
  • Cataract
  • Corneal dystrophy
  • Granular corneal dystrophy
  • Punctate corneal dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRANULAR CORNEAL DYSTROPHY TYPE I

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Coloboma
  • Iris coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

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

Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about CATARACT 9, MULTIPLE TYPES; CTRCT9

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

Low match PETERS ANOMALY

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

PETERS ANOMALY Is also known as peters congenital glaucoma

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Glaucoma
  • Reduced visual acuity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PETERS ANOMALY

Top 5 symptoms//phenotypes associated to Cataract and Strabismus

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Amblyopia Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Subcapsular cataract Uncommon - Between 30% and 50% cases
Esotropia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Coloboma Microphthalmia Exotropia Iris coloboma Posterior embryotoxon Reduced visual acuity Congenital cataract Congenital glaucoma Retinal detachment Corneal opacity Ectopia lentis Blurred vision Posterior lenticonus Lenticonus Polar cataract Opacification of the corneal stroma Hypoplasia of the iris Aniridia Choroideremia Ectopia pupillae Corneal neovascularization Peters anomaly Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Rieger anomaly Polycoria Axenfeld anomaly Thinning of Descemet membrane Posterior polar cataract Microcornea High myopia Hypertropia Optic atrophy Abnormality of the eye Abnormality of vision Generalized hyperpigmentation Corneal dystrophy Granular corneal dystrophy Punctate corneal dystrophy Nodular corneal dystrophy Lens subluxation Sclerocornea Myopia Flat cornea Corneal degeneration Intellectual disability Visual impairment Visual loss Abnormality of metabolism/homeostasis Posterior subcapsular cataract Nuclear cataract Lamellar cataract Progressive cataract Central opacification of the cornea


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