Gene Summary

Name:
pre-mRNA processing factor 3
Synonyms:
3632413F13Rik

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
embryonic lethality prior to tooth bud stage Prpf3tm1b(KOMP)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Prpf3tm1b(KOMP)Wtsi HOM   E9.5 0.00
preweaning lethality, complete penetrance Prpf3tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased neutrophil cell number Prpf3tm1b(KOMP)Wtsi HET Early adult 1.53×10-05

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 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)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
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 1.31% (6 of 457)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
oral cavity 0.22% (1 of 465)
skin 0.22% (1 of 454)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)

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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Embryo LacZ

LacZ images wholemount

4 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 Prpf3 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 Prpf3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Rod-cone dystrophy OMIM:601414

The table below shows human diseases predicted to be associated to Prpf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy OMIM:250450
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Nephronophthisis 14
Retinal degeneration OMIM:614844
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration OMIM:204200
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Abnormality of visual evoked potentials, Hypoplasia of... ORPHA:352731
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration ORPHA:1573
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentials, Hypopigme... ORPHA:79431
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Scheie Syndrome
Retinal degeneration OMIM:607016
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:609033
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Aceruloplasminemia
Retinal degeneration OMIM:604290
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... ORPHA:1215
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Retinal d... ORPHA:166035
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Vici Syndrome
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:1493
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... OMIM:264800
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:88628
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Nephronophthisis 11
Retinal degeneration OMIM:613550
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Rod-cone dystrophy OMIM:601414
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration OMIM:177850
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal degeneration, Optic at... OMIM:253280
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... ORPHA:79282
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Werner Syndrome
Retinal degeneration OMIM:277700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
Cancer-Associated Retinopathy
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... ORPHA:71505
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Freckling, Pigmentary retinopathy OMIM:610651
Hurler Syndrome
Retinal degeneration OMIM:607014
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Trichothiodystrophy
Retinal degeneration, Macular degeneration, Numerous pigmented freckles ORPHA:33364
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:581
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Cockayne Syndrome Type 3