Myopia, and Optic disc pallor

Diseases related with Myopia and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Myopia and Optic disc pallor that can help you solving undiagnosed cases.


Top matches:

Medium match RETINITIS PIGMENTOSA 14; RP14


Related symptoms:

  • Visual impairment
  • Myopia
  • Rod-cone dystrophy
  • Retinal degeneration
  • Pigmentary retinopathy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 14; RP14

Medium 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

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

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Other less relevant matches:

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

Medium 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

Medium 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

Medium match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Medium match HERMANSKY-PUDLAK SYNDROME TYPE 8


HERMANSKY-PUDLAK SYNDROME TYPE 8 Is also known as hps8

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Recurrent infections
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 8

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Medium match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Myopia and Optic disc pallor

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Pallor Common - Between 50% and 80% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Astigmatism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopia and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Constriction of peripheral visual field Abnormality of color vision Cone/cone-rod dystrophy Rod-cone dystrophy Photophobia Retinal dystrophy Cataract Nyctalopia Hypermetropia Global developmental delay Abnormality of skin pigmentation Retinopathy Retinal detachment Pigmentary retinopathy Retinal degeneration

Rare Symptoms - Less than 30% cases


Hearing impairment Seizures Macular edema Hypopigmentation of the skin Microphthalmia Blindness Edema Retinal atrophy Subcapsular cataract Depressivity Microcephaly Congenital nystagmus Visual loss Peripapillary atrophy Slow pupillary light response Retinal pigment epithelial atrophy Obesity High myopia Glaucoma Impaired smooth pursuit Progressive visual loss Coloboma Abnormality of the nervous system Facial palsy Stroke Corneal opacity Hematuria Abnormality of the cerebral white matter Congenital cataract Tachycardia Nephropathy Microcornea Renal cyst Muscle cramps Dementia Intellectual disability, mild Elevated serum creatine phosphokinase Erythroderma Congenital diaphragmatic hernia Ventricular hypertrophy Pulmonary arterial hypertension Spontaneous abortion Short chin Sandal gap Aplasia cutis congenita Dilatation Ureteral duplication Strabismus Dysarthria Cardiomyopathy Cerebellar atrophy Migraine Headache Tetraplegia Paraparesis Spastic tetraplegia Rieger anomaly Hypopigmentation of the fundus Porencephalic cyst Migraine with aura Retinal hemorrhage Neuritis Arterial tortuosity Polycoria Anterior segment developmental abnormality Perivascular spaces Diffuse leukoencephalopathy Optic neuritis Retinal arteriolar tortuosity Right hemiplegia Retinal arterial tortuosity Posterior leukoencephalopathy Anterior synechiae of the anterior chamber Corneal neovascularization Hemiparesis Cerebral hemorrhage Amblyopia Renal agenesis Spastic paraparesis Leukoencephalopathy Dysphonia Intracranial hemorrhage Hemiplegia Blurred vision Supraventricular tachycardia Congenital glaucoma Scotoma Infantile spasms Posterior embryotoxon Hypoplasia of the iris Increased intraocular pressure Ectopia pupillae Tetralogy of Fallot High forehead Wide intermamillary distance Fever Temporal optic disc pallor Beaten bronze macular sheen Abnormality of macular pigmentation Central scotoma Ataxia Anemia Arthritis Bone spicule pigmentation of the retina Rheumatoid arthritis Anisocytosis Juvenile rheumatoid arthritis Poikilocytosis Elliptocytosis Decreased mean corpuscular volume Chorioretinal degeneration Attenuation of retinal blood vessels Decreased serum iron Abnormal light- and dark-adapted electroretinogram Posterior subcapsular cataract Vitreous hemorrhage Absent foveal reflex Confusion Keratoconus Congenital blindness Mild hypermetropia Peripheral visual field loss Polydactyly Postaxial polydactyly Hyperlipidemia Hand polydactyly Glucose intolerance Macular atrophy Epiretinal membrane Ring scotoma Delayed myelination Hernia Hypertension Talipes equinovarus Hypoplasia of the corpus callosum Atrial septal defect Short nose Long philtrum Clinodactyly Hypertelorism Posteriorly rotated ears Upslanted palpebral fissure Hyperactivity Retrognathia Telecanthus Highly arched eyebrow Abnormal facial shape Growth delay Photoreceptor layer loss on macular OCT Albinism Recurrent infections Bruising susceptibility Neutropenia Esotropia Exotropia Horizontal nystagmus Menorrhagia Short stature Pulmonary fibrosis Colitis Hypoplasia of the fovea Ocular albinism Generalized hypopigmentation Impaired platelet aggregation Moderate hypermetropia Thalamic hemorrhage



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