Gene Summary

Name:
phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Synonyms:
r,  rd10,  Pdeb,  rd,  rd1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased mean corpuscular hemoglobin concentration Pde6bPde6b HOM Early adult 9.07×10-05
decreased locomotor activity Pde6bPde6b HOM Early adult 9.17×10-07
abnormal heart morphology Pde6btm1b(KOMP)Wtsi HOM Early adult 0.00
decreased body weight Pde6bPde6b HOM Early adult 3.56×10-06
increased blood uric acid level Pde6bPde6b HOM Early adult 2.61×10-09
increased circulating potassium level Pde6bPde6b HOM Early adult 2.28×10-06
increased mean corpuscular volume Pde6bPde6b HOM Early adult 2.72×10-07
increased cellular hemoglobin content Pde6bPde6b HOM Early adult 5.73×10-06
decreased defecation amount Pde6bPde6b HOM Early adult 5.51×10-05
abnormal whole-body plethysmography Pde6bPde6b HOM Early adult 1.00×10-05
decreased circulating amylase level Pde6bPde6b HOM Early adult 2.14×10-07
decreased circulating triglyceride level Pde6bPde6b HOM Early adult 2.50×10-08
decreased body temperature Pde6bPde6b HOM Early adult 1.32×10-06
enlarged heart Pde6btm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Pde6b 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 Pde6b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pde6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Macular atrophy, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration, Visual impairment OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration, Visual impairment OMIM:126600
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Macular Degeneration, Age-Related, 13
Macular scar, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Cone-Rod Dystrophy 9
Cone/cone-rod dystrophy, Visual impairment OMIM:612775
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy, Reduced visual acuity OMIM:617111
Stargardt Disease 3
Visual impairment, Macular dystrophy, Macular atrophy, Macular flecks, Reduced visual acuity OMIM:600110
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Central scotoma, Visual impairment, Macular dystrophy, Optic disc pallor,... OMIM:616170
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Dyschromatopsia, Macular dystrophy, Perifove... OMIM:608051
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Macular drusen, Reduced... OMIM:608850
Macular Degeneration, X-Linked Atrophic
Macular degeneration, Reduced visual acuity OMIM:300834
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Stargardt Disease 4
Retinal flecks, Macular degeneration, Reduced visual acuity OMIM:603786
Optic Atrophy 5
Central scotoma, Tritanomaly, Slow decrease in visual acuity, Optic atrophy OMIM:610708
Best Vitelliform Macular Dystrophy
Color vision defect, Choroideremia, Visual field defect, Cystoid macular degeneration, Metamorpho... ORPHA:1243
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Macular atrophy OMIM:617781
Macular Dystrophy, Vitelliform, 2
Visual impairment, Subretinal fluid, Macular dystrophy, Cystoid macular degeneration, Reduced vis... OMIM:153700
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, High hypermetropia, Reduced visual acuity OMIM:617879
Retinitis Pigmentosa 38
Progressive visual loss, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor, Macul... OMIM:613862
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Macular dystrophy, Vitelliform-like macular le... OMIM:616152
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Visual loss, Retinal pigment epithelial atrophy, Blindness, Su... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels, Visual impairment OMIM:618513
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Retinitis Pigmentosa 63
Rod-cone dystrophy, Blurred vision, Nyctalopia, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 11
Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Bone spicule pigmentation of the... OMIM:600138
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Peripheral Cone Dystrophy
Pericentral scotoma, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy,... OMIM:609021
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule ... OMIM:180210
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, ... OMIM:600059
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Color vision defect, Progressive visual loss, Photo... OMIM:180020
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Optic disc pallor, Visual field defect, Nyctalopia, Reduced vis... OMIM:617433
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Retinitis Pigmentosa 70
Rod-cone dystrophy, Nyctalopia, Retinal degeneration, Optic disc pallor OMIM:615922
Retinitis Pigmentosa 68
Retinal atrophy, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 62
Visual field defect, Nyctalopia, Optic disc pallor, Rod-cone dystrophy OMIM:614181
Macular Dystrophy, Vitelliform, 1
Visual impairment, Macular dystrophy, Vitelliform-like macular lesions, Visual field defect, Redu... OMIM:153840
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss,... OMIM:312700
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Visual impairment OMIM:165199
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Newfoundland Rod-Cone Dystrophy
Color vision defect, Retinal dystrophy, Nyctalopia, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 27
Blindness, Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapilla... OMIM:613750
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Amblyopia, Retinal pigment epithelial mottl... ORPHA:97341
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central scotoma, Reduced visual acuity, Retinal nerve fiber edema, Retinal telangiectasia, Centra... OMIM:619382
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Photophobia, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Oguchi Disease 2
Mizuo phenomenon, Congenital stationary night blindness OMIM:613411
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Macular Dystrophy, Patterned, 1
Dark choroid, Reticular retinal dystrophy, Macular dystrophy, Pattern dystrophy of the retina, Ch... OMIM:169150
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Cone-Rod Dystrophy 21
Photophobia, Macular atrophy, Retinal dystrophy, Nyctalopia, Reduced visual acuity OMIM:616502
Macular Dystrophy, Vitelliform, 4
Drusen, Vitelliform-like macular lesions, Macular dystrophy, Moderately reduced visual acuity OMIM:616151
Nanophthalmos 4
Reduced visual acuity, Optic disc drusen, Visual impairment OMIM:615972
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:85128
Cone Dystrophy 3
Progressive visual loss, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Reduced visual ac... OMIM:602093
Macular Dystrophy, Vitelliform, 3
Visual impairment, Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularizat... OMIM:608161
Bietti Crystalline Dystrophy
Large central visual field defect, Constriction of peripheral visual field, Central scotoma, Colo... ORPHA:41751
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Optic disc pallor, Photophobia, Retinal dystrophy, Nyctalopia OMIM:616079
Cavitary Optic Disc Anomalies
Visual field defect, Nyctalopia, Peripapillary atrophy, Reduced visual acuity OMIM:611543
Optic Atrophy 12
Dyschromatopsia, Optic disc pallor, Photophobia, Abnormal Ishihara plate test, Optic atrophy, Red... OMIM:618977
Macular Dystrophy, Retinal, 1, North Carolina Type
Central scotoma, Peripheral retinal atrophy, Macular dystrophy, Abnormality of macular pigmentati... OMIM:136550
Leber Congenital Amaurosis 4
Blindness, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Attenuation o... OMIM:604393
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Const... OMIM:606068
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Cone-Rod Dystrophy 17
Central scotoma, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Visual impairment OMIM:615163
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity,... OMIM:601718
Retinitis Pigmentosa 79
Optic disc pallor, Photophobia, Macular atrophy, Nyctalopia, Constriction of peripheral visual fi... OMIM:617460
Retinitis Pigmentosa 18
Progressive visual field defects, Rod-cone dystrophy, Retinal arteriolar constriction, Nyctalopia... OMIM:601414
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Nyctalopia, Cone/cone-rod dystrophy OMIM:610282
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Retinitis Pigmentosa 47
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Visual impairment OMIM:613758
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Slow decrease in visual acuity, Macular degeneration, Macular atrophy, Ph... OMIM:610381
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio, Glaucomatous visual field defect OMIM:177700
Retinitis Pigmentosa 20
Rod-cone dystrophy, Severely reduced visual acuity, Nyctalopia, Attenuation of retinal blood vess... OMIM:613794
Choroideremia
Hypopigmentation of the fundus, Progressive visual loss, Chorioretinal degeneration, Pigmentary r... OMIM:303100
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Nyctalopia, Attenuatio... OMIM:613194
Ethanolaminosis
Cardiomegaly OMIM:227150
Cone-Rod Dystrophy 12
Bull's eye maculopathy, Central scotoma, Color vision defect, Cone/cone-rod dystrophy, Nyctalopia... OMIM:612657
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Macular dystrophy, Reduced visual acuity OMIM:601553
Wagner Vitreoretinopathy
Visual loss, Vitreoretinopathy, Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, ... OMIM:143200
Retinopathy Of Prematurity
Abnormal macular morphology, Blindness, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tract... ORPHA:90050
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Retinitis Pigmentosa 17
Color vision defect, Rod-cone dystrophy, Photophobia, Bone spicule pigmentation of the retina, Ny... OMIM:600852
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor, Constriction of per... OMIM:616389
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Bestrophinopathy, Autosomal Recessive
Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Hypermetropia OMIM:611809
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Phot... OMIM:614500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, High hypermetropia OMIM:251700
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Optic Atrophy 9
Paracentral scotoma, Reduced visual acuity, Optic atrophy, Red-green dyschromatopsia, Visual impa... OMIM:616289
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Retinal Cone Dystrophy 3A
Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dystrophy, Nyctalopia, Reduced visual... OMIM:610024
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:614180
Retinoschisis Of Fovea
Visual loss, Hypermetropia, Macular dystrophy, Rod-cone dystrophy, Foveoschisis, Mildly reduced v... OMIM:268080
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuat... OMIM:613428
Usher Syndrome, Type Iv
Retinal degeneration, Ring scotoma, Retinal atrophy, Hyperautofluorescent macular lesion, Bone sp... OMIM:618144
Macular Degeneration, Age-Related, 1
Progressive visual loss, Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularizatio... OMIM:603075
Retinitis Pigmentosa 12
Rod-cone dystrophy, Nyctalopia OMIM:600105
Fundus Albipunctatus
Retinal flecks, Nyctalopia, Fundus albipunctatus OMIM:136880
Choroideremia
Myopia, Abnormality of vision, Progressive visual loss, Abnormality of retinal pigmentation, Nyct... ORPHA:180
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold, Red... OMIM:605750
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Cerebral visual impairment, Visual field defect, Reduced visual acuity, Optic ... OMIM:615722
Retinitis Pigmentosa
Abnormality of fundus pigmentation, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral vi... OMIM:268000
Achromatopsia 7
Absent foveal reflex, Central scotoma, Hypoplasia of the fovea, Achromatopsia, Photophobia, Macul... OMIM:616517
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy, Myopia OMIM:600510
Retinitis Pigmentosa 4
Blindness, Pigmentary retinopathy, Rod-cone dystrophy, Visual field defect, Nyctalopia OMIM:613731
Retinitis Pigmentosa 37
Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cystoid macular... OMIM:611131
Tritanopia
Abnormal retinal morphology, Color vision test abnormality, Tritanomaly, Photophobia, Reduced vis... ORPHA:88629
Bietti Crystalline Corneoretinal Dystrophy
High myopia, Retinal degeneration, Progressive night blindness, Progressive visual loss, Choriore... OMIM:210370
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Visual impairment, Myopia, Peripapillary atrophy, Retinal det... OMIM:616188
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Cone Dystrophy 4
Visual impairment, Dyschromatopsia, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity OMIM:613093
Basal Laminar Drusen
Progressive visual loss, Drusen OMIM:126700
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field OMIM:616544
Retinitis Pigmentosa 60
Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:613983
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Nyctalopia, Adult-onset night ... OMIM:608133
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Reduced visual acuity OMIM:618195
Spastic Paraplegia 74, Autosomal Recessive
Visual field defect, Peripheral axonal neuropathy, Optic atrophy, Visual impairment OMIM:616451
Retinitis Pigmentosa 92
Pigmentary retinopathy, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field,... OMIM:619614
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Hypermetropia, Macular atrophy, Nyctalopia, Cystoid macular degeneration, C... OMIM:267760
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity, Optic atrophy OMIM:309555
Stargardt Disease
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Retinal thinning, Aplas... ORPHA:827
Spastic Paraplegia 57, Autosomal Recessive
Visual loss, Optic atrophy OMIM:615658
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage, Myopia, Dyschromato... OMIM:264420
Usher Syndrome, Type Iiia
Visual field defect, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity OMIM:276902
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Nyct... OMIM:180104
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Central scotoma, Color vision defect, Retinal pigment ep... OMIM:120970
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Visual impairment, Retinal exudate, Tractional retinal detachment, R... OMIM:613310
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Visual impairment, Congenital stationary night blindness, Myopia OMIM:614565
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Constriction of peri... OMIM:608380
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Scotoma, Reduced visual acuity OMIM:165300
Cone-Rod Dystrophy 20
Central scotoma, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Constrictio... OMIM:615973
Foveal Hypoplasia-Presenile Cataract Syndrome
Abnormality of vision, Optic atrophy ORPHA:2253
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, A... ORPHA:49382
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Atten... OMIM:613756
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Congenital stationary night blindness OMIM:163500
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity OMIM:617304
Leber Congenital Amaurosis 9
Hypermetropia, Optic atrophy, Optic disc pallor, Photophobia, Macular coloboma, Nyctalopia, Atten... OMIM:608553
Retinitis Pigmentosa 1
Myopia, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Constriction of ... OMIM:180100
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Visual loss, Blindness, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:613801
Irvan Syndrome
Retinal exudate, Retinal detachment, Blurred vision, Macular edema, Photophobia, Tractional retin... ORPHA:209943
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Blindness, Pigmentary retinopathy, Optic disc pallor, Photo... OMIM:204100
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Birdshot Chorioretinopathy
Vitritis, Macular scar, Visual loss, Macular hole, Blind-spot enlargment, Retinal thinning, Cysto... ORPHA:179
Jalili Syndrome
Optic disc pallor, Photophobia, Monochromacy, Cone/cone-rod dystrophy, Nyctalopia OMIM:217080
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Familial Drusen
Visual loss, Macular hyperpigmentation, Metamorphopsia, Subretinal fluid, Abnormality of retinal ... ORPHA:75376
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Progressive night blindness, Visual impairment ORPHA:75858
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Visual impairment, Hypermetropia, Cystoid ... OMIM:611040
Leber Congenital Amaurosis 15
Retinopathy, Color vision defect, Retinal degeneration, Myopia, Hypermetropia, Rod-cone dystrophy... OMIM:613843
Blue Cone Monochromacy
Visual impairment, Myopia, Blue cone monochromacy, Abnormality of macular pigmentation, Photophob... OMIM:303700
Leber Congenital Amaurosis 16
Optic disc pallor, Photophobia, Reduced visual acuity, Nyctalopia, Visual impairment OMIM:614186
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Central scotoma, Color vision defect, Visual impairment, Myopia, Retinal de... OMIM:300476
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Visual loss, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment, Myopia ORPHA:1574
Seizures, Cortical Blindness, And Microcephaly Syndrome
Cerebral visual impairment, Optic atrophy OMIM:616632
Leber Congenital Amaurosis 14
Congenital blindness, Rod-cone dystrophy, Optic disc pallor, Photophobia, Retinal dystrophy, Nyct... OMIM:613341
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Progressive visual loss, Cystoid macular edema, Hyperautofluo... OMIM:618613
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Usher Syndrome, Type 1M
Nyctalopia, Optic disc pallor, Drusen OMIM:618632
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Retinitis Pigmentosa 45
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Nyctalopia, Pe... OMIM:613767
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Retinitis Pigmentosa 66
Central scotoma, Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity, Bone spicule pigme... OMIM:615233
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment ORPHA:75373
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Reduced visual acuity, Retinal dystrophy, Visua... OMIM:615147
Retinitis Pigmentosa 2
Pericentral scotoma, Bull's eye maculopathy, Central scotoma, Ring scotoma, High myopia, Fundus a... OMIM:312600
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Retinal Cone Dystrophy 3B
Myopia, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Scotoma OMIM:610356
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Mental And Growth Retardation With Amblyopia
Amblyopia OMIM:156190
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia, Constriction ... OMIM:312612
Retinitis Pigmentosa 58
Rod-cone dystrophy, Severely reduced visual acuity, Optic disc pallor, Bone spicule pigmentation ... OMIM:613617
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy,... OMIM:610478
Retinitis Pigmentosa 51
High myopia, Rod-cone dystrophy, Photophobia, Macular degeneration, Reduced visual acuity, Bone s... OMIM:613464
Retinal Capillary Malformation
Subretinal exudate, Myopia, Blindness, Amblyopia, Progressive visual loss, Photopsia, Retinal exu... ORPHA:71213
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Severely reduced visual acuity, Optic disc pallor, Ma... OMIM:612095
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Visual impairment, Reduced visual acuity OMIM:610156
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Cystoid macular edema, Retinal neovascularization... ORPHA:411527
Retinitis Pigmentosa 39
Rod-cone dystrophy, Visual field defect, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613809
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Corneal Dystrophy, Avellino Type
Visual impairment, Reduced visual acuity OMIM:607541
Congenital Stationary Night Blindness
Color vision defect, Hypermetropia, Myopia, Abnormality of retinal pigmentation, Retinal thinning... ORPHA:215
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Vitelliform-like macular lesions, Choroideremia, Visu... ORPHA:99000
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy, Visual impairment OMIM:614706
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Progressive visual loss, Optic atrophy OMIM:609055
Oguchi Disease
Myopia, Congenital stationary night blindness, Rod-cone dystrophy, Diplopia, Macular degeneration... ORPHA:75382
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Visual impairment OMIM:616370
Cataract 7
Visual loss, Mildly reduced visual acuity OMIM:115660
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Photophobia, Nyctalopia, Constricti... OMIM:616469
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Optic Atrophy 2
Optic atrophy OMIM:311050
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Myopia, Progressive visual loss, Retinal detachment, Posterior vitre... OMIM:616468
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Visual loss, Central scotoma, Color vision defect, Pigmentary retinopathy... OMIM:604116
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Peripheral retinal avascularization, Blindness, Retinal exudate, Fal... OMIM:601813
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Blindness, Abnormality of retinal pigmentation, Retinal arteriola... OMIM:605549
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Abnormality of vision, Optic atrophy ORPHA:2773
Keratoconus 9
Reduced visual acuity OMIM:617928
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Myopia 22, Autosomal Dominant
Visual impairment, Myopia, Reduced visual acuity OMIM:615420
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Central scotoma, Color vision defect, Blind-spot enlargment, Optic disc pallor, Photophobia, Redu... OMIM:616732
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy, Constriction of peripheral visual field OMIM:182830
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Blindness, Retinal exudate, Ret... OMIM:133780
Retinal Aplasia
Congenital blindness OMIM:179900
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Retinal Detachment
Retinal detachment OMIM:180050
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Blindness, Abnormality of the optic disc, Retinal vascular tortuosity, Reduced... ORPHA:440727
Bardet-Biedl Syndrome 21
Retinal thinning, Blindness, Hypoplasia of the fovea, Myopia, Retinal atrophy, Rod-cone dystrophy... OMIM:617406
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Blindness, Pigmentary retinopathy, Photophobia, Nyctalopia, At... OMIM:204000
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:2246
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Blurred vision, Retinal fold, Visual field defect, Exudative retinal detachment... ORPHA:209956
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Photophobia, Bone spicule pigmentat... OMIM:602772
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Blindness, Retinal detachment, Posterior r... OMIM:193235
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormality of the optic nerve, Rod-cone dystrophy, Abnormal fundus morphology, Absent retinal pi... ORPHA:436274
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Blindness, Progressive visual loss, Macular degeneration, Optic atrophy OMIM:256730
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Visual impairment OMIM:617717
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:284454
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Intellectual Developmental Disorder, Autosomal Dominant 33
Amblyopia, Chorioretinal degeneration OMIM:616311
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Retinitis Pigmentosa 43
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Late-Onset Retinal Degeneration
Visual loss, Abnormal best corrected visual acuity test, Fundus atrophy, Choroidal neovasculariza... ORPHA:67042
Usher Syndrome, Type Iiib
Optic disc pallor, Photophobia, Visual impairment OMIM:614504
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio, Glaucomatous visual field defect OMIM:603383
Retinitis Punctata Albescens
Absent foveal reflex, Central scotoma, Progressive night blindness, Progressive visual field defe... ORPHA:52427
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy And Hearing Loss 1
Dyschromatopsia, Hemeralopia, Retinal atrophy, Photophobia, Macular degeneration, Visual impairment OMIM:617236
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Chorioretinal atrophy, Myopia OMIM:258870
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, Myopia OMIM:615058
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Photophobia, Reduced visual acuity OMIM:618970
Ă…land Islands Eye Disease
Color vision defect, Hypoplasia of the fovea, Myopia, Hypopigmentation of the fundus, Difficulty ... ORPHA:178333
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Photophobia, Macular degeneration, Cone/cone-rod dys... OMIM:610283
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Leber Hereditary Optic Neuropathy
Central scotoma, Slow decrease in visual acuity, Optic atrophy, Blurred vision, Centrocecal scoto... ORPHA:104
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the macula, Abnormal fundus morp... ORPHA:370097
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Reduced visual acuity OMIM:615434
Optic Atrophy 1
Central scotoma, Visual impairment, Centrocecal scotoma, Tritanomaly, Optic atrophy, Red-green dy... OMIM:165500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Central scotoma, Visual impairment, Dyschromatopsia, Optic disc pallor, Optic atrophy, Constricti... OMIM:612989
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Nyctalopia, Retinal degeneration OMIM:615982
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia OMIM:617547
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Albinism, Oculocutaneous, Type Vi
Visual impairment, Photophobia, Hypoplasia of the fovea, Reduced visual acuity OMIM:113750
Chromosome Xq21 Deletion Syndrome
Progressive visual loss, Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Nyctal... OMIM:303110
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Chromosome 16Q12 Duplication Syndrome
High myopia, Temporal optic disc pallor, Retinal pigment epithelial mottling, Tritanomaly, Photop... OMIM:619649
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Early-Onset X-Linked Optic Atrophy
Central scotoma, Color vision defect, Progressive visual loss, Decreased nerve conduction velocit... ORPHA:98890
Retinitis Pigmentosa 44
Rod-cone dystrophy, Attenuation of retinal blood vessels, Constriction of peripheral visual field... OMIM:613769
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Blindness, Vitreous haze, ... ORPHA:40923
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Reduced visual acuity,... OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Abnormal macular morphology, Progressive night blindness, Myopia... ORPHA:414
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
Cone-Rod Dystrophy 6
Progressive night blindness, Hemeralopia, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, ... OMIM:601777
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Myopia ORPHA:320396
Macrophthalmia, Colobomatous, With Microcornea
Reduced visual acuity, Macular atrophy, Myopia OMIM:602499
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Vitreoretinochoroidopathy
Color vision defect, Abnormality of chorioretinal pigmentation, Dyschromatopsia, Blindness, Retin... OMIM:193220
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment OMIM:605808
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Visual impairment, Photophobia, Reduced visual acuity OMIM:204870
Night Blindness, Congenital Stationary, Type 1H
Nyctalopia, Photophobia, Mild myopia, Hypermetropia OMIM:617024
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Visual loss, Optic atrophy OMIM:611726
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Bornholm Eye Disease
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia... OMIM:300843
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Respiratory failure, Hyperuricemia, Pulmonary arterial hypertension, An... OMIM:613845
Norrie Disease
Blindness, Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Spastic Paraplegia 55, Autosomal Recessive
Central scotoma, Onion bulb formation, Peripheral axonal neuropathy, Reduced visual acuity, Optic... OMIM:615035
Autosomal Recessive Spastic Paraplegia Type 74
Visual field defect, Peripheral axonal neuropathy, Optic atrophy, Visual impairment ORPHA:468661
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Visual impairment OMIM:616881
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor, Monochromacy OMIM:268040
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Melena, Increased total iron binding capacity, Abnormal... ORPHA:98870
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal at... OMIM:145350
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous, Myopia OMIM:609508
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Narp Syndrome
Blindness, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy... ORPHA:644
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Macular atrophy, Optic atrophy, Visual impairment OMIM:616171
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Optic Pathway Glioma
Visual loss, Blindness, Neurofibromas, Papilledema, Visual field defect, Optic atrophy, Reduced v... ORPHA:2086
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Night Blindness, Congenital Stationary, Type 1B
Nyctalopia, Hemeralopia, Congenital stationary night blindness, Myopia OMIM:257270
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Visual impairment OMIM:617830
Neovascular Glaucoma
Visual loss, Retinal vein occlusion, Visual acuity test abnormality, Retinal vascular proliferati... ORPHA:94058
Cherubism
Progressive visual loss, Optic atrophy, Visual impairment ORPHA:184
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Progressive visual loss, Onion bulb formation, ... OMIM:311070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Retinal detachment, Retinal fold, O... OMIM:251270
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Congenital stationary night blindness, Myopia OMIM:613216
Dermochondrocorneal Dystrophy
Reduced visual acuity ORPHA:79149
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Congenital stationary night blindness, Visual impairment OMIM:610427
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Visual impairment OMIM:616859
Amaurosis-Hypertrichosis Syndrome
High hypermetropia, Cone/cone-rod dystrophy, Photophobia, Retinal dystrophy, Optic atrophy, Visua... ORPHA:1021
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Myopia ORPHA:2572
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Homocarnosinosis
Abnormality of retinal pigmentation OMIM:236130
Optic Nerve Hypoplasia, Bilateral
Visual impairment, Morning glory anomaly, Optic nerve hypoplasia, Remnants of the hyaloid vascula... OMIM:165550
Spastic Paraplegia 81, Autosomal Recessive
Cerebral visual impairment, Optic atrophy, Retinal vascular tortuosity, Reduced visual acuity OMIM:618768
Canavan Disease
Blindness, Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:141
Jalili Syndrome
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Optic atrophy, Visual impa... ORPHA:1873
Retinitis Pigmentosa
Progressive night blindness, Blindness, Abnormality of retinal pigmentation, Photophobia, Optic a... ORPHA:791
Retinitis Pigmentosa 69
Pigmentary retinopathy, Abnormality of retinal pigmentation, Constriction of peripheral visual fi... OMIM:615780
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Poretti-Boltshauser Syndrome
Retinal thinning, Amblyopia, Myopia, Retinal atrophy, Retinal dystrophy OMIM:615960
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Abnormality of retinal pigmentation, Visual loss, Retinal detachment ORPHA:171844
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Photophobia, Hypoplasia of the fovea, Reduced visual acuity OMIM:619165
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:258501
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Macular dystrophy, Reduced visual acuity OMIM:615983
Wolfram-Like Syndrome, Autosomal Dominant