Rod-cone dystrophy, and Astigmatism

Diseases related with Rod-cone dystrophy and Astigmatism

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


Top matches:

Medium match NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2


NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 Is also known as night blindness, congenital stationary, rambusch type

Related symptoms:

  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Congenital stationary night blindness


SOURCES: OMIM MESH MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2

Medium 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

Medium match NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A


NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A Is also known as csnb, incomplete, x-linked|night blindness, congenital stationary, type 2|csnb2

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A

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Other less relevant matches:

Medium match RETINITIS PIGMENTOSA 75; RP75


Related symptoms:

  • Intellectual disability
  • Myopia
  • Blindness
  • Intellectual disability, mild
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 75; RP75

Medium 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

Medium match RETINAL DYSTROPHY AND OBESITY; RDOB


Related symptoms:

  • Myopia
  • Obesity
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


SOURCES: OMIM MENDELIAN

More info about RETINAL DYSTROPHY AND OBESITY; RDOB

Medium match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Medium match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Medium match MRCS SYNDROME


MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Medium match ÅLAND ISLANDS EYE DISEASE


Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ÅLAND ISLANDS EYE DISEASE Is also known as aied|forsius-eriksson type ocular albinism|forsius-eriksson syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ÅLAND ISLANDS EYE DISEASE

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Astigmatism

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

Patients with Rod-cone dystrophy and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinal dystrophy Abnormality of the eye Intellectual disability Cataract Visual impairment Congenital stationary night blindness

Rare Symptoms - Less than 30% cases


Abnormal retinal morphology Vitreous hemorrhage Cone/cone-rod dystrophy Retinal detachment Dyschromatopsia Peripheral retinal atrophy Retinal pigment epithelial atrophy Retinal atrophy Abnormal electroretinogram Abnormality of color vision Retinopathy Visual loss Peripheral visual field loss Pallor Hypopigmentation of the skin Hypermetropia Scleral staphyloma Posterior staphyloma Retinal arteriolar constriction Moderate myopia Retinal neovascularization Presenile cataracts Pulverulent cataract Cone dysfunction syndrome Abnormality of skin pigmentation Shallow anterior chamber Cystoid macular edema Optically empty vitreous Macular edema Microcornea Pigmentary retinopathy Macular atrophy High myopia Chorioretinal atrophy Falls Angle closure glaucoma Hypoplasia of the fovea Incomplete congenital stationary night blindness Axial myopia Protanopia Giant melanosomes in melanocytes Congenital adrenal hypoplasia Achromatopsia Hypopigmentation of the fundus Tapetoretinal degeneration Ocular albinism Adrenal hypoplasia Chorioretinal hypopigmentation Severe vision loss Congenital nystagmus Albinism Glaucoma Muscular dystrophy Hypogonadism Abnormality of metabolism/homeostasis Short stature Retinal arteriolar occlusion Abnormality of chorioretinal pigmentation Congenital cataract Hepatosplenomegaly Microphthalmia Peripapillary atrophy Hallucinations Progressive visual loss Anxiety Hyporeflexia Depressivity Sensorineural hearing impairment Neoplasm Ataxia Hearing impairment Obesity Schizophrenia Rotary nystagmus Congenital blindness Constriction of peripheral visual field Exotropia Esotropia Deeply set eye Mixed astigmatism Intellectual disability, mild Horizontal nystagmus Progressive hearing impairment Vestibular dysfunction Hypertonia Intellectual disability, moderate Edema Abnormality of the skeletal system Strabismus Molar tooth sign on MRI Hepatic fibrosis Encephalocele Cerebellar vermis hypoplasia Abnormality of eye movement Coloboma Agenesis of corpus callosum Visual field defect Hydrocephalus Ventriculomegaly Abnormal facial shape Seizures Abnormal cochlea morphology Vestibular hypofunction Hemianopia Iris hypopigmentation High hypermetropia Scotoma Difficulty adjusting from light to dark



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

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