Myopia, and Cone/cone-rod dystrophy

Diseases related with Myopia and Cone/cone-rod dystrophy

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


Top matches:

High match CONE-ROD DYSTROPHY 18; CORD18


Related symptoms:

  • Myopia
  • Reduced visual acuity
  • High myopia
  • Diplopia
  • Cone/cone-rod dystrophy


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 18; CORD18

High match RETINAL CONE DYSTROPHY 3A; RCD3A


RETINAL CONE DYSTROPHY 3A; RCD3A Is also known as cone dystrophy with night blindness and supernormal rod responses, pde6h-related

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Visual loss
  • Reduced visual acuity


SOURCES: OMIM MESH MENDELIAN

More info about RETINAL CONE DYSTROPHY 3A; RCD3A

High match CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1


X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994). Genetic Heterogeneity of X-linked Cone-Rod DystrophyAdditional forms of X-linked cone-rod dystrophy include CORDX2 (OMIM ), mapped to chromosome Xq27, and CORDX3 (OMIM ), caused by mutation in the CACNA1F gene (OMIM ) on chromosome Xp11.23.For a discussion of autosomal forms of cone-rod dystrophy, see CORD2 (OMIM ).

CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 Is also known as cone dystrophy 1, x-linked|cod1

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Abnormality of metabolism/homeostasis
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1

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Other less relevant matches:

High match CONE-ROD DYSTROPHY 6; CORD6


CONE-ROD DYSTROPHY 6; CORD6 Is also known as rcd2|retinal cone dystrophy 2

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Visual loss
  • Reduced visual acuity


SOURCES: OMIM MESH MENDELIAN

More info about CONE-ROD DYSTROPHY 6; CORD6

High match RETINITIS PIGMENTOSA 3; RP3


X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

RETINITIS PIGMENTOSA 3; RP3 Is also known as rp15|retinitis pigmentosa 15|cone-rod degeneration, x-linked|choroidoretinal degeneration with retinal reflex in heterozygous women

Related symptoms:

  • Intellectual disability
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 3; RP3

High match BLUE CONE MONOCHROMATISM


Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).

BLUE CONE MONOCHROMATISM Is also known as s cone monochromatism|x-linked incomplete achromatopsia|blue cone monochromatism|color blindness, blue monocone monochromatic type|blue cone monochromacy|colorblindness, blue-mono-cone-monochromatic type|cbbm|s cone monochromacy|atypical x-linked achromat

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Reduced visual acuity
  • Photophobia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BLUE CONE MONOCHROMATISM

High match CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3


Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013).For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Reduced visual acuity
  • Photophobia


SOURCES: OMIM MESH MENDELIAN

More info about CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3

High match CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE


Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.

CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE Is also known as cone dystrophy with supernormal rod erg|cdsrr|cone dystrophy with night blindness and supernormal rod responses, kcnv2-related|cone dystrophy with supernormal scotopic electroretinogram|cone dystrophy with supernormal rod responses|cone dystrophy with sup

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Visual loss


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE

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 CONE-ROD DYSTROPHY 9; CORD9


Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 9; CORD9

Top 5 symptoms//phenotypes associated to Myopia and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Photophobia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Astigmatism Uncommon - Between 30% and 50% cases
Central scotoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopia and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of color vision Visual impairment Achromatopsia Cone dysfunction syndrome Nyctalopia Progressive cone degeneration Visual loss Blindness Macular atrophy Pallor Scotoma High myopia Rod-cone dystrophy Retinal degeneration Blue cone monochromacy Dyschromatopsia

Rare Symptoms - Less than 30% cases


Pendular nystagmus Abnormality of macular pigmentation Retinal atrophy Constriction of peripheral visual field Progressive visual loss Retinal dystrophy Bull's eye maculopathy Optic disc pallor Peripheral visual field loss Abnormal retinal morphology Retinal detachment Foveal atrophy Glaucoma Abnormality of skin pigmentation Obesity Coloboma Protanomaly Horizontal nystagmus Cataract Vitreous hemorrhage Peripapillary atrophy Retinopathy Subcapsular cataract Strabismus Absent foveal reflex Abnormal light- and dark-adapted electroretinogram Pigmentary retinopathy Retinal pigment epithelial atrophy Intellectual disability Cone monochromacy Progressive night blindness Diplopia Foveal hyperpigmentation Abnormality of metabolism/homeostasis Scarring Macular scar Chorioretinal atrophy Hemeralopia Moderate myopia Monochromacy Optic atrophy Intellectual disability, mild Muscular dystrophy Falls Abnormality of retinal pigmentation Corneal dystrophy Abnormal electroretinogram Posterior subcapsular cataract



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