Rod-cone dystrophy, and High myopia

Diseases related with Rod-cone dystrophy and High myopia

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


Top matches:

High match RETINITIS PIGMENTOSA 1; RP1


Related symptoms:

  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • High myopia


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 1; RP1

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

High match X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME


X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME Is also known as retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion|aldred syndrome|retinitis pigmentosa and intellectual disability due to del(x)(p11.3)|retinitis pigmentosa and intellectual disability due to monosomy xp11.3

Related symptoms:

  • Intellectual disability
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME

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Other less relevant matches:

High match BIETTI CRYSTALLINE DYSTROPHY


Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.

BIETTI CRYSTALLINE DYSTROPHY Is also known as bietti crystalline corneoretinal dystrophy|bcd|bietti crystalline retinopathy|bietti tapetoretinal degeneration with marginal corneal dystrophy|bietti crystalline dystrophy

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIETTI CRYSTALLINE DYSTROPHY

High match RETINITIS PIGMENTOSA 51; RP51


Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

High match HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME


High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

High match ACHROMATOPSIA 3; ACHM3


ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia|rod monochromatism 1, formerly|achm1, formerly|rod monochromacy 1, formerly|rmch1, formerly|pingelapese blindness|achromatopsia with myopia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 3; ACHM3

High match CONE-ROD DYSTROPHY 16; CORD16


Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 16; CORD16

High match BARDET-BIEDL SYNDROME 21; BBS21


BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 21; BBS21

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

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Blindness Common - Between 50% and 80% cases
Retinal degeneration Common - Between 50% and 80% cases
Nyctalopia Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Constriction of peripheral visual field Photophobia Retinal dystrophy Nystagmus Visual impairment Retinal atrophy Cone/cone-rod dystrophy Obesity Cognitive impairment Polydactyly Reduced visual acuity Bone spicule pigmentation of the retina

Rare Symptoms - Less than 30% cases


Mild myopia Global developmental delay Hypoplasia of the fovea Peripheral visual field loss Chorioretinal atrophy Progressive visual loss Scleral staphyloma Postaxial polydactyly Pallor Attenuation of retinal blood vessels Short stature Chorioretinal degeneration Achromatopsia Intellectual disability Macular atrophy Scotoma Retinopathy Visual loss Abnormal retinal morphology Abnormality of color vision Dyschromatopsia Severe vision loss Small hand Beaten bronze macular sheen Horseshoe kidney Pendular nystagmus Albuminuria Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Profound hearing impairment Bilateral sensorineural hearing impairment Hematuria Retinal thinning Hypodontia Postaxial hand polydactyly Tapetoretinal degeneration Temporal optic disc pallor Monochromacy Elevated hepatic transaminase Horizontal pendular nystagmus Abnormality of skin pigmentation Abnormality of the dentition Optic disc pallor Hyperlipidemia Hand polydactyly Glucose intolerance Delayed speech and language development Proteinuria Subcapsular cataract Vertigo Abnormality of blood and blood-forming tissues Conductive hearing impairment High hypermetropia Undetectable light- and dark-adapted electroretinogram Abnormality of metabolism/homeostasis Scarring Cone dysfunction syndrome Progressive cone degeneration Macular scar Blue cone monochromacy Pigmentary retinopathy Iris hypopigmentation Decreased light- and dark-adapted electroretinogram amplitude Choroideremia Hypermetropia Truncal obesity Central scotoma Peripheral neuropathy Nuclear cataract Abnormality of the eye Congenital cataract Corneal dystrophy Abnormality of lipid metabolism Corneal crystals Progressive night blindness Paracentral scotoma Ring scotoma Marginal corneal dystrophy Macular degeneration Abnormal light- and dark-adapted electroretinogram Hearing impairment Sensorineural hearing impairment Hyperautofluorescent macular lesion



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

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