Rare diseases that primarily involve the ophthalmic & vision system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 514 conditions · last built 2026-08-30.
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A44
- Absence Deformity Of Leg-Cataract Syndrome
- Acanthamoeba Keratitis
- Achromatopsia
- Achromatopsia 2
- Achromatopsia 3
- Achromatopsia 4
- Achromatopsia 5
- Achromatopsia 6
- Achromatopsia 7
- ACO2-Related Optic Atrophy With Or Without Extraocular Features
- Acrootoocular Syndrome
- Acute Macular Neuroretinopathy
- Acute Retinal Necrosis Syndrome
- Adult-Onset Foveomacular Vitelliform Dystrophy
- Age Related Macular Degeneration 1
- Age Related Macular Degeneration 10
- Age Related Macular Degeneration 11
- Age Related Macular Degeneration 12
- Age Related Macular Degeneration 14
- Age Related Macular Degeneration 2
- Age Related Macular Degeneration 4
- Age Related Macular Degeneration 6
- Age Related Macular Degeneration 7
- Age Related Macular Degeneration 8
- Age Related Macular Degeneration 9
- Age-Related Macular Degeneration
- Aicardi Syndrome
- Aland Island Eye Disease
- Aniridia 1
- Aniridia 2
- Aniridia 3
- Aniridia-Absent Patella Syndrome
- Anterior Segment Developmental Abnormality With Extraocular Manifestations
- Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
- Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
- Autosomal Dominant Keratitis
- Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
- Autosomal Dominant Optic Atrophy Classic Form
- Autosomal Dominant Rhegmatogenous Retinal Detachment
- Autosomal Dominant Vitreoretinochoroidopathy
- Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
- Autosomal Recessive Ocular Albinism
- Autosomal Recessive Optic Atrophy, OPA7 Type
- Avellino Corneal Dystrophy
B9
- Benign Concentric Annular Macular Dystrophy
- BEST1-Related Vitreoretinochoroidopathy
- Bietti Crystalline Corneoretinal Dystrophy
- Birdshot Chorioretinopathy
- Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
- Bothnia Retinal Dystrophy
- Bradyopsia
- Bullous Dystrophy, Macular Type
- Butterfly-Shaped Pigment Dystrophy
C101
- Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome
- Cataract - Microcornea Syndrome
- Cataract 1 Multiple Types
- Cataract 10 Multiple Types
- Cataract 11 Multiple Types
- Cataract 13 With Adult I Phenotype
- Cataract 14 Multiple Types
- Cataract 15 Multiple Types
- Cataract 16 Multiple Types
- Cataract 17 Multiple Types
- Cataract 18
- Cataract 19 Multiple Types
- Cataract 20 Multiple Types
- Cataract 21 Multiple Types
- Cataract 22 Multiple Types
- Cataract 23
- Cataract 24
- Cataract 25
- Cataract 26 Multiple Types
- Cataract 27
- Cataract 29
- Cataract 3 Multiple Types
- Cataract 30
- Cataract 31 Multiple Types
- Cataract 32
- Cataract 33
- Cataract 34 Multiple Types
- Cataract 35
- Cataract 37
- Cataract 38
- Cataract 39 Multiple Types
- Cataract 4 Multiple Types
- Cataract 40
- Cataract 41
- Cataract 42
- Cataract 43
- Cataract 44
- Cataract 45
- Cataract 46 Juvenile-Onset
- Cataract 48
- Cataract 5 Multiple Types
- Cataract 6 Multiple Types
- Cataract 7
- Cataract 8 Multiple Types
- Cataract 9 Multiple Types
- Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
- Cataract-Deafness-Hypogonadism Syndrome
- Cataract-Glaucoma Syndrome
- Cavernous Hemangioma Of Retina
- Central Cloudy Dystrophy Of Francois
- Central Retinal Artery Occlusion
- Central Retinal Vein Occlusion
- Central Retinal Vein Occlusion With Macular Edema
- Cerebroretinal Microangiopathy With Calcifications And Cysts 1
- Cerebroretinal Microangiopathy With Calcifications And Cysts 2
- Cerebroretinal Microangiopathy With Calcifications And Cysts 3
- Chorea, Remitting, With Nystagmus And Cataract
- Chorioretinitis
- Coats Disease
- Coats Plus Syndrome
- Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
- Cochleosaccular Degeneration-Cataract Syndrome
- Coloboma Of Choroid And Retina
- Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome
- Combined Hamartoma Of The Retinal Pigment Epithelium And Retina
- Cone Monochromatism
- Confetti-Like Macular Atrophy
- Congenital Aniridia
- Congenital Blue Dot Cataract
- Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
- Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome
- Congenital Corneal Opacities, Cornea Guttata, And Corectopia
- Congenital Fibrosis Of Extraocular Muscles
- Congenital Fibrosis Of Extraocular Muscles Type 1
- Congenital Glaucoma
- Congenital Hereditary Endothelial Dystrophy Of Cornea
- Congenital Hypotrichosis With Juvenile Macular Dystrophy
- Congenital Retinal Arteriovenous Communication
- Congenital Stromal Corneal Dystrophy
- Congenital Total Cataract
- Cornea Guttata With Anterior Polar Cataracts
- Corneal Abscess
- Corneal Dystrophy
- Corneal Dystrophy, Fuchs Endothelial, 1
- Corneal Dystrophy, Fuchs Endothelial, 2
- Corneal Dystrophy, Fuchs Endothelial, 3
- Corneal Dystrophy, Fuchs Endothelial, 4
- Corneal Dystrophy, Fuchs Endothelial, 5
- Corneal Dystrophy, Fuchs Endothelial, 6
- Corneal Dystrophy, Fuchs Endothelial, 7
- Corneal Dystrophy, Fuchs Endothelial, 8
- Corneal Dystrophy, Lattice Type 3A
- Corneal Dystrophy, Meesmann, 1
- Corneal Dystrophy, Meesmann, 2
- Corneal Dystrophy, Posterior Polymorphous, 4
- Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
- Corneal Dystrophy-Perceptive Deafness Syndrome
- Corneal Endothelial Dystrophy
- CYP1B1-Related Glaucoma With Or Without Anterior Segment Dysgenesis
- Cystoid Macular Edema
- Cytomegalovirus Retinitis
D8
- Developmental Delay, Language Impairment, And Ocular Abnormalities
- Diffuse Unilateral Subacute Neuroretinitis
- Disseminated Chorioretinitis
- Diverticulosis Of Bowel, Hernia, And Retinal Detachment
- Dominant Hereditary Optic Atrophy
- Doyne Honeycomb Retinal Dystrophy
- Dry Age Related Macular Degeneration
- Dystrophies Primarily Involving The Retinal Pigment Epithelium
E23
- Eales Disease
- Early-Onset Anterior Polar Cataract
- Early-Onset Lamellar Cataract
- Early-Onset Non-Syndromic Cataract
- Early-Onset Nuclear Cataract
- Early-Onset Partial Cataract
- Early-Onset Posterior Subcapsular Cataract
- Early-Onset Sutural Cataract
- Early-Onset Zonular Cataract
- Ectopia Lentis-Chorioretinal Dystrophy-Myopia Syndrome
- EDICT Syndrome
- Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
- Epithelial And Subepithelial Corneal Dystrophy
- Epithelial Recurrent Erosion Dystrophy
- Extraocular Retinoblastoma
- Exudative Vitreoretinopathy 1
- Exudative Vitreoretinopathy 2, X-Linked
- Exudative Vitreoretinopathy 3
- Exudative Vitreoretinopathy 4
- Exudative Vitreoretinopathy 5
- Exudative Vitreoretinopathy 6
- Exudative Vitreoretinopathy 7
- Exudative Vitreoretinopathy 8
F18
- Familial Anetoderma
- Familial Benign Flecked Retina
- Familial Exudative Vitreoretinopathy
- Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome
- Familial Retinal Arterial Macroaneurysm
- FDXR-Related Optic Atrophy Mitochondrial Dysfunction Syndrome
- Fibrosis Of Extraocular Muscles, Congenital, 2
- Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
- Fibrosis Of Extraocular Muscles, Congenital, 3b
- Fibrosis Of Extraocular Muscles, Congenital, 3c
- Fibrosis Of Extraocular Muscles, Congenital, 5
- Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
- Fleck Corneal Dystrophy
- Focal Chorioretinitis
- Foveal Hypoplasia-Presenile Cataract Syndrome
- Fuchs' Endothelial Dystrophy
- Fungal Keratitis
- FZD4-Related Exudative Vitreoretinopathy
G23
- Glaucoma 1, Open Angle, A
- Glaucoma 1, Open Angle, J
- Glaucoma 1, Open Angle, K
- Glaucoma 1, Open Angle, L
- Glaucoma 1, Open Angle, M
- Glaucoma 1, Open Angle, N
- Glaucoma 1, Open Angle, O
- Glaucoma 1, Open Angle, P
- Glaucoma 3, Primary Congenital, C
- Glaucoma 3, Primary Congenital, D
- Glaucoma 3, Primary Congenital, E
- Glaucoma 3, Primary Infantile, B
- Glaucoma 3A
- Glaucoma Of Childhood
- Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea
- Glaucoma Type 1C
- Glaucoma With Elevated Episcleral Venous Pressure
- Glaucoma-Sleep Apnea Syndrome
- Glaucomatocyclitic Crisis
- Gonococcal Keratitis
- Granular Corneal Dystrophy
- Grayson-Wilbrandt Corneal Dystrophy
- Groenouw Corneal Dystrophy Type I
H14
- HEC Syndrome
- Helicoid Peripapillary Chorioretinal Degeneration
- Hereditary Benign Intraepithelial Dyskeratosis
- Hereditary Glaucoma
- Hereditary Glaucoma, Primary Closed-Angle
- Hereditary Hyperferritinemia With Congenital Cataracts
- Hereditary Macular Dystrophy
- Hereditary Optic Atrophy
- Herpes Simplex Virus Keratitis
- Histoplasmosis Retinitis
- Honey-Droplet Corneal Dystrophy
- Hypergonadotropic Hypogonadism-Cataract Syndrome
- Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
- Hypomyelination And Congenital Cataract
I14
- Idiopathic Linear Interstitial Keratitis
- Infectious Epithelial Keratitis
- Inherited Vitreoretinopathy
- Intellectual Developmental Disorder And Retinitis Pigmentosa; IDDRP
- Intraocular Medulloepithelioma
- Intraocular Retinoblastoma
- Irido-Corneo-Trabecular Dysgenesis
- Iridocorneal Endothelial Syndrome
- Iris Hypoplasia With Glaucoma
- IRVAN Syndrome
- Isolated Aniridia
- Isolated Chorioretinal Dystrophy
- Isolated Macular Dystrophy
- Isolated Retinal Racemose Hemangioma
J1
K2
L8
M24
- Macular Coloboma-Cleft Palate-Hallux Valgus Syndrome
- Macular Corneal Dystrophy
- Macular Degeneration, Age-Related, 3
- Macular Degeneration, Early-Onset
- Macular Degeneration, X-Linked Atrophic
- Macular Dystrophy With Central Cone Involvement
- Macular Dystrophy With Or Without Cone Dysfunction
- Macular Dystrophy, Fenestrated Sheen Type
- Macular Dystrophy, Retinal
- Macular Dystrophy, Retinal, 3
- Macular Dystrophy, Retinal, 4
- Macular Dystrophy, Retinal, 5
- Macular Dystrophy, X-Linked
- Macular Telangiectasia Type 1
- Macular Telangiectasia Type 3
- Meesmann Corneal Dystrophy
- Melanoma, Malignant Familial Intraocular
- Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
- Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
- Microcornea-Myopic Chorioretinal Atrophy
- Microphthalmia, Isolated, With Cataract 1
- MRCS Syndrome
- Myopia, High, With Cataract And Vitreoretinal Degeneration
- Myopic Macular Degeneration
N6
O28
- Occult Macular Dystrophy
- Ocular Albinism
- Ocular Albinism With Late-Onset Sensorineural Deafness
- Ocular Albinism, Type I
- Ocular Cicatricial Pemphigoid
- Ocular Melanoma
- Ocular Melanoma With Extraocular Extension
- Ocular Onchocerciasis
- Ocular Surface Squamous Neoplasia
- Ocular Tuberculosis
- Oculodental Syndrome, Rutherfurd Type
- OPA1-Related Optic Atrophy With Or Without Extraocular Features
- Optic Atrophy 11
- Optic Atrophy 12
- Optic Atrophy 13 With Retinal And Foveal Abnormalities
- Optic Atrophy 14
- Optic Atrophy 15
- Optic Atrophy 16
- Optic Atrophy 2
- Optic Atrophy 3
- Optic Atrophy 4
- Optic Atrophy 5
- Optic Atrophy 6
- Optic Atrophy 8
- Optic Atrophy 9
- Optic Atrophy With Demyelinating Disease Of CNS
- Ornithine Aminotransferase Deficiency
- Orofaciodigital Syndrome IX
P34
- Patterned Dystrophy Of The Retinal Pigment Epithelium
- Patterned Macular Dystrophy
- Patterned Macular Dystrophy 1
- Patterned Macular Dystrophy 2
- Patterned Macular Dystrophy 3
- PAX6-Related Ocular Dysgenesis
- Pediatric Extraocular Retinoblastoma
- Pediatric Intraocular Retinoblastoma
- Periocular Meningioma
- Peripheral Focal Chorioretinitis
- Peritoneal Multicystic Mesothelioma
- Persistent Hyperplastic Primary Vitreous
- Peters Anomaly-Cataract Syndrome
- Photokeratitis
- Pigmentary Retinal Dystrophy
- Posterior Amorphous Corneal Dystrophy
- Posterior Corneal Dystrophy
- Posterior Polymorphous Corneal Dystrophy
- Posterior Polymorphous Corneal Dystrophy 1
- Posterior Polymorphous Corneal Dystrophy 2
- Posterior Polymorphous Corneal Dystrophy 3
- Posterior Subcapsular Cataract
- Pre-Descemet Corneal Dystrophy
- Primary Anetoderma
- Primary Congenital Glaucoma
- Primary Open Angle Glaucoma
- Progressive Bifocal Chorioretinal Atrophy
- Progressive Retinal Dystrophy Due To Retinol Transport Defect
- Prolonged Electroretinal Response Suppression 1
- Prolonged Electroretinal Response Suppression 2
- Pseudoexfoliation Glaucoma
- Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
- Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
- Pulverulent Cataract
R122
- Recurrent Idiopathic Neuroretinitis
- Reis-Bucklers' Corneal Dystrophy
- Reticular Dystrophy Of The Retinal Pigment Epithelium
- Retinal Aplasia
- Retinal Arterial Tortuosity
- Retinal Capillary Hemangioma
- Retinal Capillary Malformation
- Retinal Ciliopathy
- Retinal Cone Dystrophy 4
- Retinal Cone Dystrophy Type 1
- Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
- Retinal Dystrophies Primarily Involving Bruch Membrane
- Retinal Dystrophy
- Retinal Dystrophy And Obesity
- Retinal Dystrophy In Systemic Or Cerebroretinal Lipidoses
- Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies
- Retinal Dystrophy With Or Without Macular Staphyloma
- Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
- Retinal Dystrophy, X-Linked, Gardner-Hardcastle Type
- Retinal Macular Dystrophy Type 2
- Retinal Melanoma
- Retinal Neuroblastoma
- Retinal Vasculitis
- Retinitis
- Retinitis Pigmentosa
- Retinitis Pigmentosa 1
- Retinitis Pigmentosa 10
- Retinitis Pigmentosa 100
- Retinitis Pigmentosa 11
- Retinitis Pigmentosa 12
- Retinitis Pigmentosa 13
- Retinitis Pigmentosa 14
- Retinitis Pigmentosa 17
- Retinitis Pigmentosa 18
- Retinitis Pigmentosa 19
- Retinitis Pigmentosa 2
- Retinitis Pigmentosa 20
- Retinitis Pigmentosa 22
- Retinitis Pigmentosa 23
- Retinitis Pigmentosa 24
- Retinitis Pigmentosa 25
- Retinitis Pigmentosa 26
- Retinitis Pigmentosa 27
- Retinitis Pigmentosa 28
- Retinitis Pigmentosa 29
- Retinitis Pigmentosa 3
- Retinitis Pigmentosa 30
- Retinitis Pigmentosa 31
- Retinitis Pigmentosa 32
- Retinitis Pigmentosa 33
- Retinitis Pigmentosa 34
- Retinitis Pigmentosa 35
- Retinitis Pigmentosa 36
- Retinitis Pigmentosa 37
- Retinitis Pigmentosa 38
- Retinitis Pigmentosa 39
- Retinitis Pigmentosa 4
- Retinitis Pigmentosa 40
- Retinitis Pigmentosa 41
- Retinitis Pigmentosa 42
- Retinitis Pigmentosa 43
- Retinitis Pigmentosa 44
- Retinitis Pigmentosa 45
- Retinitis Pigmentosa 46
- Retinitis Pigmentosa 47
- Retinitis Pigmentosa 48
- Retinitis Pigmentosa 49
- Retinitis Pigmentosa 50
- Retinitis Pigmentosa 51
- Retinitis Pigmentosa 53
- Retinitis Pigmentosa 54
- Retinitis Pigmentosa 55
- Retinitis Pigmentosa 56
- Retinitis Pigmentosa 57
- Retinitis Pigmentosa 58
- Retinitis Pigmentosa 59
- Retinitis Pigmentosa 6
- Retinitis Pigmentosa 60
- Retinitis Pigmentosa 61
- Retinitis Pigmentosa 62
- Retinitis Pigmentosa 63
- Retinitis Pigmentosa 64
- Retinitis Pigmentosa 65
- Retinitis Pigmentosa 66
- Retinitis Pigmentosa 67
- Retinitis Pigmentosa 68
- Retinitis Pigmentosa 69
- Retinitis Pigmentosa 7
- Retinitis Pigmentosa 7, Digenic
- Retinitis Pigmentosa 70
- Retinitis Pigmentosa 71
- Retinitis Pigmentosa 72
- Retinitis Pigmentosa 73
- Retinitis Pigmentosa 74
- Retinitis Pigmentosa 75
- Retinitis Pigmentosa 76
- Retinitis Pigmentosa 77
- Retinitis Pigmentosa 78
- Retinitis Pigmentosa 79
- Retinitis Pigmentosa 80
- Retinitis Pigmentosa 81
- Retinitis Pigmentosa 83
- Retinitis Pigmentosa 84
- Retinitis Pigmentosa 85
- Retinitis Pigmentosa 86
- Retinitis Pigmentosa 87 With Choroidal Involvement
- Retinitis Pigmentosa 88
- Retinitis Pigmentosa 9
- Retinitis Pigmentosa 90
- Retinitis Pigmentosa 92
- Retinitis Pigmentosa 93
- Retinitis Pigmentosa 94, Variable Age At Onset
- Retinitis Pigmentosa 95
- Retinitis Pigmentosa 96
- Retinitis Pigmentosa 97
- Retinitis Pigmentosa 98
- Retinitis Pigmentosa 99
- Retinitis Pigmentosa With Or Without Situs Inversus
- Retinitis Pigmentosa Y-Linked
- Retinitis Pigmentosa-Deafness Syndrome
- Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome
- Retinitis Punctata Albescens
S12
- Schnyder Crystalline Corneal Dystrophy
- Secondary Early-Onset Glaucoma
- Severe Early-Childhood-Onset Retinal Dystrophy
- Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome
- Snowflake Vitreoretinal Degeneration
- Sorsby Fundus Dystrophy
- Spastic Paraparesis-Cataracts-Speech Delay Syndrome
- Spindle Cell Intraocular Melanoma
- Stickler Syndrome, Type I, Nonsyndromic Ocular
- Stromal Corneal Dystrophy
- Stromal Keratitis
- Subepithelial Mucinous Corneal Dystrophy
T6
U1
V11
- Vasoproliferative Tumor Of Retina
- Vici Syndrome
- Vitelliform Macular Dystrophy
- Vitelliform Macular Dystrophy 1
- Vitelliform Macular Dystrophy 2
- Vitelliform Macular Dystrophy 3
- Vitelliform Macular Dystrophy 4
- Vitelliform Macular Dystrophy 5
- Vitreoretinal Dystrophy
- Vitreoretinopathy
- Von Hippel-Lindau Syndrome