Nystagmus, and Retinopathy

Diseases related with Nystagmus and Retinopathy

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


Top matches:

Low match EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2


Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).For a discussion of genetic heterogeneity of FEVR, see EVR1 (OMIM ).

EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2 Is also known as evrx|exudative vitreoretinopathy, familial, 2|fevr, x-linked|fevrx

Related symptoms:

  • Nystagmus
  • Microphthalmia
  • Reduced visual acuity
  • Deeply set eye
  • Retinopathy


SOURCES: OMIM MESH MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2

Low 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

Low match JOUBERT SYNDROME 28; JBTS28


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Mendelian

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

Learn more

Other less relevant matches:

Low match LEBER CONGENITAL AMAUROSIS 7; LCA7


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 7; LCA7

Low match LEBER CONGENITAL AMAUROSIS 4; LCA4


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 (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}; for cone-rod dystrophy, see {120970}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 4; LCA4

Low 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

Low match LEBER CONGENITAL AMAUROSIS 15; LCA15


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 (summary by Gu et al., 1997).Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14 ).For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 15; LCA15

Low match HASHIMOTO-PRITZKER SYNDROME


Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis (see this term) characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).

HASHIMOTO-PRITZKER SYNDROME Is also known as congenital langerhans cell histiocytosis

Related symptoms:

  • Nystagmus
  • Retinopathy
  • Papule
  • Osteolysis
  • Diabetes insipidus


SOURCES: MESH ORPHANET MENDELIAN

More info about HASHIMOTO-PRITZKER SYNDROME

Low match RETINITIS PIGMENTOSA 80; RP80


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Visual impairment
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 80; RP80

Low match SPINOCEREBELLAR ATAXIA 10; SCA10


The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 10; SCA10

Top 5 symptoms//phenotypes associated to Nystagmus and Retinopathy

Symptoms // Phenotype % cases
Congenital blindness Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Visual loss Pigmentary retinopathy Photophobia Hypermetropia Keratoconus Blindness Optic disc pallor

Rare Symptoms - Less than 30% cases


Pendular nystagmus High hypermetropia Retinal degeneration Abnormality of skin pigmentation Cone/cone-rod dystrophy Macular atrophy Myopia Cataract Pallor Ataxia Global developmental delay Retinal atrophy Abnormality of eye movement Constriction of peripheral visual field Astigmatism Deeply set eye Histiocytosis Neurodevelopmental delay Hyperreflexia Personality changes Urinary urgency Cognitive impairment Seizures Cone-shaped epiphyses of the phalanges of the hand Morphological abnormality of the pyramidal tract Skin nodule Bronchogenic cyst Decreased nerve conduction velocity Progressive hearing impairment Progressive visual loss Hypopigmentation of the skin Renal insufficiency Hearing impairment Hypomelanotic macule Dysdiadochokinesis Incoordination Ophthalmoplegia Cerebellar atrophy Abnormal pyramidal sign EEG abnormality Gait ataxia Dysmetria Dementia Unsteady gait Osteolysis Depressivity Dysphagia Dysarthria Polyneuropathy Progressive cerebellar ataxia Urinary incontinence Focal-onset seizure Abnormality of extrapyramidal motor function Intention tremor Tremor Limb ataxia Diabetes insipidus Undetectable light- and dark-adapted electroretinogram Papule Retinopathy of prematurity Peripheral retinal atrophy Rotary nystagmus Retinal pigment epithelial atrophy Exotropia Esotropia Subretinal exudate Intraretinal exudate Peripheral vitreous opacities Falciform retinal fold Generalized hypotonia Retinal neovascularization Retinal hole Vitreous floaters Exudative vitreoretinopathy Retinal vascular tortuosity Retinal fold Vitreoretinopathy Retinal detachment Intellectual disability Apraxia Mild hypermetropia Subcapsular cataract Slow pupillary light response Macular edema Impaired smooth pursuit Congenital nystagmus Abnormality of color vision Confusion Edema Posterior subcapsular cataract Coloboma Oculomotor apraxia Glaucoma Microphthalmia Bone spicule pigmentation of the retina Attenuation of retinal blood vessels Macular degeneration Corneal opacity Undetectable electroretinogram Molar tooth sign on MRI Scanning speech



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Hypertonia, related diseases and genetic alterations Skeletal muscle atrophy and Abdominal pain, related diseases and genetic alterations Failure to thrive and Dolichocephaly, related diseases and genetic alterations Muscle weakness and Paraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more