Visual impairment, and Hypermetropia

Diseases related with Visual impairment and Hypermetropia

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


Top matches:

Low match RETINITIS PIGMENTOSA 12; RP12


RETINITIS PIGMENTOSA 12; RP12 Is also known as rp with or without preserved paraarteriole retinal pigment epithelium|retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium|rp with or without pprpe

Related symptoms:

  • Nystagmus
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 12; RP12

Low match LEBER CONGENITAL AMAUROSIS 13; LCA13


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Hypermetropia
  • Retinal dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 13; LCA13

Low match LEBER CONGENITAL AMAUROSIS 5; LCA5


Related symptoms:

  • Nystagmus
  • Visual impairment
  • Hypermetropia
  • Abnormality of skin pigmentation
  • Congenital blindness


SOURCES: MESH OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 5; LCA5

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Other less relevant matches:

Low match LEBER CONGENITAL AMAUROSIS 12; LCA12


Related symptoms:

  • Nystagmus
  • Visual impairment
  • Hypermetropia
  • Congenital blindness
  • Congenital nystagmus


SOURCES: MESH OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 12; LCA12

Low match LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD


Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017).

Related symptoms:

  • Hearing impairment
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Abnormality of the eye
  • Hypermetropia


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD

Low match NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H


Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (OMIM ).

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Photophobia
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H

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 AUTOSOMAL RECESSIVE BESTROPHINOPATHY


Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).

AUTOSOMAL RECESSIVE BESTROPHINOPATHY Is also known as retinopathy, burgess-black type

Related symptoms:

  • Edema
  • Visual loss
  • Glaucoma
  • Reduced visual acuity
  • Retinopathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE BESTROPHINOPATHY

Low match LEBER CONGENITAL AMAUROSIS 8; LCA8


Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Visual loss
  • Photophobia


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 8; LCA8

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

Top 5 symptoms//phenotypes associated to Visual impairment and Hypermetropia

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Congenital blindness Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Hypermetropia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy

Rare Symptoms - Less than 30% cases


Moderate hypermetropia Photophobia Myopia High hypermetropia Strabismus Esotropia High myopia Abnormality of macular pigmentation Undetectable electroretinogram Congenital stationary night blindness Visual loss Keratoconus Subretinal deposits Retinal vein occlusion Pendular nystagmus Retinal flecks Cataract External ophthalmoplegia Ophthalmoplegia Exotropia Retinal pigment epithelial atrophy Abnormal retinal morphology Optic disc hypoplasia Hemeralopia Monochromacy Abnormal fundus morphology Hypertropia Moderate myopia Decreased light- and dark-adapted electroretinogram amplitude Chorioretinal atrophy Macular edema Abnormality of the eye Retinal dystrophy Cone/cone-rod dystrophy Macular atrophy Mild hypermetropia Abnormality of skin pigmentation Congenital nystagmus Hearing impairment Retinal degeneration Retinopathy Severe hearing impairment Mild myopia Peripheral visual field loss Vitreoretinopathy Bone spicule pigmentation of the retina Paravenous chorioretinal atrophy Edema Glaucoma Complete congenital stationary night blindness



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