Nystagmus, and Macular degeneration

Diseases related with Nystagmus and Macular degeneration

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


Top matches:

Medium match NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D


CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (OMIM ).

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D Is also known as csnb, complete, autosomal recessive

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D

Low match CONE DYSTROPHY 3; COD3


Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006).Intrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage (Chen et al., 2017).

CONE DYSTROPHY 3; COD3 Is also known as retinal cone dystrophy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONE DYSTROPHY 3; COD3

Low 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

Low match COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME


COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME Is also known as macom syndrome

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Reduced visual acuity
  • Coloboma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME

Low match ACHROMATOPSIA 7; ACHM7


Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015).For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (OMIM ).

Related symptoms:

  • Nystagmus
  • Blindness
  • Reduced visual acuity
  • Photophobia
  • Astigmatism


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 7; ACHM7

Low match CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL


Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Nystagmus and Macular degeneration

Symptoms // Phenotype % cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Macular atrophy Very Common - Between 80% and 100% cases
Photophobia Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Nystagmus and Macular degeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cone/cone-rod dystrophy Nyctalopia Retinal degeneration Achromatopsia Cone dysfunction syndrome Progressive cone degeneration Visual loss Central scotoma High myopia Astigmatism Dyschromatopsia Abnormality of color vision

Rare Symptoms - Less than 30% cases


Horizontal nystagmus Pendular nystagmus Strabismus Scotoma Chorioretinal coloboma Iris coloboma Coloboma Progressive visual loss Blue cone monochromacy Abnormal retinal morphology Scarring Rod-cone dystrophy Visual impairment Retinal dystrophy Foveal atrophy Abnormality of macular pigmentation Monochromacy Cone monochromacy Pallor Congenital stationary night blindness Bull's eye maculopathy Chorioretinal atrophy Protanomaly Cataract Corneal dystrophy Microphthalmia Glaucoma Retinal detachment Congenital glaucoma Buphthalmos Miosis Corneal scarring Abnormal electroretinogram Progressive hearing impairment Abnormality of retinal pigmentation Increased intraocular pressure Macular scar Peripheral visual field loss Hemeralopia Progressive night blindness Moderate myopia Abnormality of metabolism/homeostasis Microcornea Scleral staphyloma Retinal atrophy Posterior staphyloma Hypoplasia of the fovea Absent foveal reflex Hearing impairment Sensorineural hearing impairment Visual field defect Optic nerve dysplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Encephalocele, related diseases and genetic alterations Melanoma and Autistic behavior, related diseases and genetic alterations Myopia and Type I diabetes mellitus, related diseases and genetic alterations Strabismus and High myopia, related diseases and genetic alterations Strabismus and Skin rash, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more