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Gene: Ipo8 MGI:2444611

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Gene Summary

Name:
importin 8
Synonyms:
Ranbp8,  6230418K12Rik,  Om1,  C130009K11Rik,  OM-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Ipo8tm1.1(KOMP)Vlcg HOM Early adult 1.84×10-05
increased mean corpuscular hemoglobin Ipo8tm1.1(KOMP)Vlcg HET Early adult 1.55×10-05
abnormal optic disk morphology Ipo8tm1.1(KOMP)Vlcg HOM Early adult 7.89×10-08
decreased grip strength Ipo8tm1.1(KOMP)Vlcg HOM   Early adult 1.51×10-05
abnormal retina blood vessel morphology Ipo8tm1.1(KOMP)Vlcg HOM Early adult 4.00×10-05
cataract Ipo8tm1.1(KOMP)Vlcg HOM   Early adult 8.66×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Adult LacZ

LacZ Images Section

43 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Forepaw

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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X-ray

XRay Images Skull Lateral Orientation

19 Images

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Embryo LacZ

LacZ images wholemount

12 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

15 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

1 Images

View images

Human diseases caused by Ipo8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ipo8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Viss Syndrome
Retinal detachment OMIM:619472
Loeys-Dietz Syndrome
ORPHA:60030

The table below shows human diseases predicted to be associated to Ipo8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Optic atrophy, Rod-cone dystrophy OMIM:609055
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Memory impairment, Cataract OMIM:620312
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Spastic Paraplegia, Optic Atrophy, And Dementia
Dementia, Optic atrophy, Optic disc pallor OMIM:182830
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea OMIM:617272
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Depression, Optic atrophy OMIM:614296
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Depression, Sensory axonal neuropathy, Cognitive impairment, Dementia ORPHA:329314
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Ceroid Lipofuscinosis, Neuronal, 7
Mental deterioration, Pigmentary retinopathy, Optic atrophy, Retinopathy OMIM:610951
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy, Dementia... OMIM:204200
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Trichomegaly
Cataract OMIM:190330
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Merrf
Optic atrophy, Cognitive impairment ORPHA:551
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Leber Congenital Amaurosis 9
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Cognitive impairment ORPHA:1171
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Depression, Macular degeneration, Irritability, Retinal degeneration, Psychomotor ... OMIM:256730
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Wolfram-Like Syndrome
Dementia, Peripheral axonal neuropathy, Depression, Optic atrophy ORPHA:411590
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Depression, Peripheral axonal neuropathy OMIM:619425
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Emotional lability, Decreased nerve conduction velocity ORPHA:98890
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy OMIM:258700
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Cognitive impairment OMIM:258501
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Depression, Retinopathy, Emotional lability, Irritability, Cognitive impairment ORPHA:216873
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Optic Atrophy 14
Optic disc pallor OMIM:620550
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Progressive neurologic deterioration, Opaci... OMIM:252650
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Spinocerebellar Ataxia 7
Mental deterioration, Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Narp Syndrome
Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Irritability, Rod-cone dystro... ORPHA:644
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy, Flat cornea, Shallow a... OMIM:602499
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Attention deficit hyperact... OMIM:152950
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Depression, Astigmatism OMIM:248000
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Leber Optic Atrophy And Dystonia
Dementia, Optic atrophy, Leber optic atrophy OMIM:500001
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism ORPHA:231183
Cataract 47
Cataract, Microcornea OMIM:612018
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Rod-cone dyst... OMIM:612674
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cognitive impairment, Cataract OMIM:270800
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Sarcosinemia
Optic atrophy, Emotional lability ORPHA:3129
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
3-Methylglutaconic Aciduria, Type I
Dementia, Optic atrophy, Short attention span, Cognitive impairment OMIM:250950
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor, Irritability OMIM:615281
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Depression, Emotional lability, Retinal degeneration, Cognitive impairmen... ORPHA:79264
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Peripheral demyelination, Attenuation of retinal... OMIM:609033
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Beta-Propeller Protein-Associated Neurodegeneration
Dementia, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment, Cognitive impairment ORPHA:3437
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:141
Muscle-Eye-Brain Disease
Optic atrophy, Cognitive impairment, Cataract ORPHA:588
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract OMIM:619780
Neuronal Intranuclear Inclusion Disease
Dementia, Optic atrophy ORPHA:2289
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Idiopathic Intracranial Hypertension
Abnormal emotion, Depression, Papilledema ORPHA:238624
Microcephaly, Amish Type
Hypoplasia of the fovea, Optic atrophy, Irritability OMIM:607196
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Alpha-Mannosidosis, Adult Form
Cataract, Depression, Confusion, Corneal opacity, Optic disc pallor ORPHA:309288
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal dege... OMIM:619260
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Cerebellar Ataxia-Hypogonadism Syndrome
Dementia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Attention deficit hyperactivity disorder, Cognitive impairment, Rod-cone ... ORPHA:216866
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Rapid neurologic deterioration, Abnormality of retinal pigmentation, Abn... ORPHA:585
Infantile Refsum Disease
Optic atrophy, Facial palsy, Rod-cone dystrophy, Cataract ORPHA:772
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... ORPHA:1215
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Pigmentary retinopathy, Memory impairment, Depression, Cataract ORPHA:79095
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per... OMIM:613843
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Memory impairment, Depression, Irritability, Abnormal retinal vascular morphology,... ORPHA:247691
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Conjunctival telangiectasia, Heterochromia iridis, At... ORPHA:3205
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Cerebral Visual Impairment
Optic atrophy, Short attention span, Attention deficit hyperactivity disorder, Retinopathy of pre... ORPHA:447788
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Aniridia 3
Cataract, Aniridia OMIM:617142
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Wolfram Syndrome 2
Optic atrophy, Depression, Optic neuropathy OMIM:604928
Walker-Warburg Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Retinal detachment, Cornea... ORPHA:899
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Neurofibroma, Bilateral vestibular schwannoma, Peripher... OMIM:101000
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Orthostatic hypotension, Lattice corneal dystrophy OMIM:105120
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Irritability, Punctate keratitis, Corneal erosion ORPHA:92050
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract ORPHA:2715
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Memory impairment, Depression, Optic atrophy OMIM:604121
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Memory impairment, Depression, Cataract ORPHA:314404
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Metachromatic Leukodystrophy
Mental deterioration, Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelinatio... OMIM:250100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Cognitive impairment, Decreased sensory nerve conduction velocity, Optic neuropath... ORPHA:320375
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Memory impairment, Depression, Progressive psychomotor deterioration, Decreased ne... ORPHA:309271
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Optic atrophy, Depression, Emotional lability, Motor axonal neuropathy, Abn... OMIM:614298
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Cataract, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Cataract OMIM:610651
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Phace Association
Optic atrophy, Increased retinal vascularity, Horner syndrome, Developmental cataract, Optic nerv... OMIM:606519
Hermansky-Pudlak Syndrome 8
Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran... OMIM:614077
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,... OMIM:267750
Pineoblastoma
Memory impairment, Retinoblastoma, Papilledema, Cognitive impairment, Progressive neurologic dete... ORPHA:251909
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste... OMIM:231550
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy, Abnormal lens morphology ORPHA:363417
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Shwachman-Diamond Syndrome 1