Strabismus, and Esotropia

Diseases related with Strabismus and Esotropia

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


Top matches:

Low match CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2


Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996).For discussion of genetic heterogeneity of CNA, see CNA1 (OMIM ).

Related symptoms:

  • Hypermetropia
  • Esotropia
  • Corneal arcus
  • Flat cornea
  • Accommodative esotropia


SOURCES: MESH OMIM MENDELIAN

More info about CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2

Low match COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE


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

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

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Other less relevant matches:

Low match POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR


Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria
  • Esotropia


SOURCES: OMIM MENDELIAN

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

Low match PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY


Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.

PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY Is also known as pprca

Related symptoms:

  • Strabismus
  • Hypermetropia
  • Esotropia
  • Chorioretinal atrophy
  • Peripheral visual field loss


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY

Low match CONGENITAL STROMAL CORNEAL DYSTROPHY


Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.

CONGENITAL STROMAL CORNEAL DYSTROPHY Is also known as congenital stromal corneal dystrophy|cscd|witschel dystrophy|congenital hereditary stromal dystrophy

Related symptoms:

  • Nystagmus
  • Strabismus
  • Glaucoma
  • Photophobia
  • Abnormality of the eye


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL STROMAL CORNEAL DYSTROPHY

Low match CONGENITAL STATIONARY NIGHT BLINDNESS


Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia|myopia-night blindness|night blindness, congenital stationary, with myopia|csnb, complete, x-linked|nbm1|congenital essential nyctalopia

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL STATIONARY NIGHT BLINDNESS

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

Low match DUANE RETRACTION SYNDROME 2; DURS2


Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010).For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (OMIM ).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME 2; DURS2

Low match LEBER CONGENITAL AMAUROSIS 3; LCA3


Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 3; LCA3

Top 5 symptoms//phenotypes associated to Strabismus and Esotropia

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Exotropia Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases
Amblyopia Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Reduced visual acuity

Rare Symptoms - Less than 30% cases


Myopia Hypertropia High myopia Nyctalopia Seizures Flat cornea Lenticonus Posterior lenticonus Hearing impairment Polar cataract Congenital cataract Posterior polar cataract Choroideremia Subcapsular cataract Abnormality of the nervous system Moderate hypermetropia Complete congenital stationary night blindness Moderate myopia Ptosis Eyelid retraction Cranial nerve paralysis Retinopathy Rotary nystagmus Retinal pigment epithelial atrophy Retinal atrophy Congenital blindness Constriction of peripheral visual field Retinal dystrophy Astigmatism Deeply set eye Congenital ptosis Rod-cone dystrophy Visual loss Visual impairment Upper eyelid retraction Monochromacy Fourth cranial nerve palsy Duane anomaly Abnormal fundus morphology Ophthalmoplegia Hemeralopia Posterior embryotoxon Perisylvian polymicrogyria Language impairment Polymicrogyria Intellectual disability Corneal degeneration Sclerocornea Microphthalmia Peripheral visual field loss Lens subluxation Iris coloboma Coloboma Decreased corneal thickness Accommodative esotropia Corneal arcus Chorioretinal atrophy Vitreoretinopathy Optic disc hypoplasia Congenital corneal dystrophy Abnormality of macular pigmentation Congenital stationary night blindness Abnormal retinal morphology External ophthalmoplegia Blindness Increased corneal thickness Congenital glaucoma Bone spicule pigmentation of the retina Corneal dystrophy Progressive visual loss Corneal opacity Abnormality of the eye Photophobia Paravenous chorioretinal atrophy Peripheral retinal atrophy



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