SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that this support group organisation focuses on:
3-methylglutaconic aciduria type 3 AGel amyloidosis Ablepharon macrostomia syndrome Abnormal eye movements Aceruloplasminemia Achromatopsia Acute annular outer retinopathy Acute endophthalmitis Acute zonal occult outer retinopathy Adult-onset foveomacular vitelliform dystrophy Albinisme oculaire récessif lié à l'X Albinisme oculocutané Albinisme oculocutané type 1 Albinisme oculocutané type 1B Albinisme oculocutané type 2 Albinisme oculocutané type 3 Albinisme oculocutané type 4 Alström syndrome Amaurosis-hypertrichosis syndrome Anesthésie congénitale du nerf trijumeau Aniridia Aniridia-absent patella syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia-renal agenesis-psychomotor retardation syndrome Anomalie de la pigmentation cutanée avec atteinte ophtalmologique Anomalie du bord libre de la paupière Anomalie du développement du segment antérieur de l'oeil sans manifestations extra-oculaires Anomalie papillaire morning glory Anophthalmia/microphthalmia-esophageal atresia syndrome Anterior segment developmental anomaly Aphakie primaire congénitale Aplasie des glandes salivaires et lacrymales Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Ataxia-oculomotor apraxia type 1 Atopic keratoconjunctivitis Atrophie gyrée choriorétinienne Atrophie optique autosomique dominante plus Atrophie optique précoce liée à l'X Autosomal dominant keratitis Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant optic atrophy Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy, classic form Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant vitreoretinochoroidopathy Autosomal recessive Stickler syndrome Autosomal recessive bestrophinopathy Autosomal recessive isolated optic atrophy Autosomal recessive optic atrophy, OPA7 type Axenfeld anomaly Axenfeld-Rieger syndrome Bardet-Biedl syndrome Behr syndrome Benign tumor of palpebral epidermis Best vitelliform macular dystrophy Bietti crystalline dystrophy Birdshot chorioretinopathy Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blindness-scoliosis-arachnodactyly syndrome Blue cone monochromatism Bradyopsie Butterfly-shaped pigment dystrophy Canthal anomaly Cataract-glaucoma syndrome Cataract-microcornea syndrome Cataracte coralliforme Cataracte céruléenne Cataracte partielle précoce Cataracte polaire antérieure précoce Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebroretinal vasculopathy Chandler syndrome Choroideremia Choroïdite serpigineuse Chronic endophthalmitis Coats plus syndrome Cogan-Reese syndrome Coloboma of choroid and retina Coloboma of eye lens Coloboma of eyelid Coloboma of iris Coloboma of macula Coloboma of optic disc Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Color-vision disease Cone dystrophy with supernormal rod response Cone rod dystrophy Congenital Horner syndrome Congenital alacrima Congenital ectropion Congenital entropion Congenital glaucoma Congenital hereditary endothelial dystrophy type II Congenital retinal arteriovenous communication Congenital stationary night blindness Congenital trochlear nerve palsy Congenital vitreoretinal dysplasia Conjonctivite ligneuse Conjunctival tumor Conjunctival vascular anomaly Cornea plana congénitale Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome Corneal endotheliitis Corneodysgenesis Corneoiridogoniodysgenesis Cryptophtalmie Cystoid macular dystrophy Dermochondrocorneal dystrophy Dermoïde bulbaire ou dermolipome de la conjonctive Developmental defect of the eye Disease predisposing to age-related macular degeneration Distichiasis isolé Drusen familiaux Duane retraction syndrome Dyskératose intraépithéliale héréditaire bénigne Dysplasie chondroectodermique avec cécité nocturne Dyssegmental dysplasia-glaucoma syndrome Dystrophie aréolaire et colobomateuse Dystrophie centrale aréolaire de la choroïde Dystrophie cornéenne amorphe postérieure Dystrophie cornéenne de Lisch Dystrophie cornéenne de Meesmann Dystrophie cornéenne de la membrane basale Dystrophie cornéenne endothéliale de Fuchs Dystrophie cornéenne endothéliale liée à l'X Dystrophie cornéenne gélatineuse en goutte Dystrophie cornéenne mouchetée Dystrophie cornéenne postérieure polymorphe Dystrophie cornéenne stromale congénitale Dystrophie endothéliale congénitale héréditaire type I Dystrophie maculaire annulaire concentrique bénigne Dystrophie maculaire génétique Dystrophie maculaire rétinienne type 2 Dystrophie nuageuse centrale de François Dystrophie pseudo-inflammatoire de Sorsby Dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires Dystrophie rétinienne type Bothnie Dégénérescence marginale pellucide Dégénérescence rétinienne d'apparition tardive Délétion distale 6p Dépigmentation aiguë bilatérale des iris EDICT syndrome Eales disease Early-onset non-syndromic cataract Early-onset nuclear cataract Early-onset posterior polar cataract Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset sutural cataract Early-onset zonular cataract Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectropion congénital de l'épithélium pigmenté de l'iris Endophtalmie Epiblepharon Epicanthal fold Epithelial recurrent erosion dystrophy Essential iris atrophy Euryblepharon Familial benign flecked retina Familial congenital palsy of trochlear nerve Familial flecked retinopathy Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Fuchs heterochromic iridocyclitis Fundus albipunctatus Fundus pulverulentus Gardner syndrome Genetic vitreous-retinal disease Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucome associé à une anomalie de la migration des cellules de la crête neurale Glaucome à début précoce primitif Glaucome à début pédiatrique d'origine génétique Goniodysgenesis Gonococcal conjunctivitis Granular corneal dystrophy type I Granular corneal dystrophy type II Grayson-Wilbrandt corneal dystrophy HERNS syndrome Helicoid peripapillary chorioretinal degeneration Hereditary hyperferritinemia-cataract syndrome Hereditary optic neuropathy Hereditary vascular retinopathy Hermansky-Pudlak syndrome due to AP-3 deficiency Herpes simplex virus stromal keratitis High myopia-sensorineural deafness syndrome Horizontal gaze palsy with progressive scoliosis Hypotrichose avec dégénérescence maculaire juvénile Hémangiome ou hémolymphangiome de la conjonctive Idiopathic anterior uveitis Idiopathic linear interstitial keratitis Idiopathic macular telangiectasia type 3 Idiopathic posterior uveitis Idiopathic uveal effusion syndrome Infectious anterior uveitis Infectious epithelial keratitis Infectious panuveitis Infectious posterior uveitis Intellectual disability-alacrima-achalasia syndrome Iridocorneal endothelial syndrome Isolated aniridia Isolated ankyloblepharon filiforme adnatum Isolated congenital alacrima Isolated congenital ectropion Isolated congenital sclerocornea Isolated cryptophthalmia Isolated ectopia lentis Isolated optic nerve hypoplasia/aplasia Juvenile cataract-microcornea-renal glucosuria syndrome Juvenile glaucoma Kandori fleck retina Keratoconus Kinetic eyelid anomaly Lacrimal drainage system anomaly Lattice corneal dystrophy type I Leber congenital amaurosis Leber plus disease Lens position anomaly Lens shape anomaly Lens size anomaly Lymphangiectasie de la conjonctive Lésion pigmentée de la conjonctive Lésion précancéreuse de l'épiderme de la paupière MMEP syndrome MORM syndrome MRCS syndrome Macroanévrisme artériel rétinien familial Macular coloboma-cleft palate-hallux valgus syndrome Macular corneal dystrophy Maculopathie primaire ou secondaire non classifiée Major induction processes eye anomaly Maladie de Coats Maladie de Norrie Maladie ophtalmique des îles Åland Maladie ophtalmique rare Maladie rare avec ptosis Maladie rare avec strabisme Maladie rare du nerf oculomoteur Maladie rétinienne héréditaire Maladie syndromique avec strabisme Maladies systémiques avec panuvéite Malformation congénitale de l'oeil avec glaucome comme manifestation majeure Malformation congénitale de la paupière Malignant tumor of palpebral epidermis Masses télangiectasiques périphériques Matthew-Wood syndrome Mesenchymatous palpebral tumor Microblépharon-ablépharie Microcorie congénitale Microcornea-corectopia-macular hypoplasia syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microphtalmie colobomateuse Microphtalmie type Lenz Microphtalmie-anophtalmie-colobome isolée Microphthalmia with brain and digit anomalies Microphthalmia with linear skin defects syndrome Microphthalmia-ankyloblepharon-intellectual disability syndrome Microphthalmia-anophthalmia-coloboma Microphthalmia-brain atrophy syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microspherophakia-metaphyseal dysplasia syndrome Minimal pigment oculocutaneous albinism type 1 Mitochondrial DNA-related progressive external ophthalmoplegia Moebius syndrome Muir-Torre syndrome Multifocal pattern dystrophy simulating fundus flavimaculatus Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant Myopic macular degeneration Mégalocornée isolée congénitale Nanophthalmos Neovascular glaucoma Nervous system anomaly with eye involvement Neuro-ophthalmological disease Neurodégénérescence associée à FA2H Neurogenic palpebral tumor Neuromyelitis optica spectrum disorder Neuropathie optique héréditaire de Leber Neurotrophic keratopathy Non-hereditary retinoblastoma Non-infectious posterior uveitis North Carolina macular dystrophy Occult macular dystrophy Ocular albinism Ocular albinism with congenital sensorineural deafness Ocular albinism with late-onset sensorineural deafness Ocular cicatricial pemphigoid Ocular coloboma Ocular motor apraxia, Cogan type Oculocutaneous albinism type 1A Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous or ocular albinism Oculomotor apraxia Oguchi disease Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to a point mutation Oligocône trichromatie Optic atrophy-intellectual disability syndrome Palpebral lentiginosis Palpebral nevus Palpebral piliary tumor Palpebral sebaceous gland tumor Palpebral tumor with a vascular malformation Panuveitis Panuvéite idiopathique Paralysie oculomotrice nucléaire Paraneoplastic uveitis Pattern dystrophy Persistent hyperplastic primary vitreous Persistent placoid maculopathy Peters anomaly Peters plus syndrome Pigmentation disorder with eye involvement, excluding albinism Pigmentation réticulée liée au chromosome X Pigmented palpebral tumor Pigmented paravenous retinochoroidal atrophy Polymicrogyria with optic nerve hypoplasia Posterior corneal dystrophy Posterior uveitis Pre-Descemet corneal dystrophy Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Progressive bifocal chorioretinal atrophy Progressive cone dystrophy Progressive retinal dystrophy due to retinol transport defect Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptérygium familial de la conjonctive Pulverulent cataract Rare acquired eye disease Rare disease with glaucoma as a major feature Rare disorder of the lacrimal apparatus Rare disorder with conjunctival involvement as a major feature Rare disorder with lens opacification Rare eye disease due to a differentiation anomaly Rare eyelid malposition disorder Rare genetic eye disease Rare hyperopia and astigmatism Rare inflammatory eye disease Rare isolated myopia Rare lens disease Rare palpebral disorder Rare palpebral, lacrimal system and conjunctival disease Rare refraction anomaly Reis-Bücklers corneal dystrophy Renal coloboma syndrome Reticular dystrophy of the retinal pigment epithelium Retinal capillary malformation Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome Retinitis pigmentosa Retinopathy of prematurity Rieger anomaly Rétinite ponctuée albescente Rétinoblastome Rétinoblastome héréditaire Rétinopathie paranéoplasique Rétraction congénitale de la paupière supérieure Rétraction congénitale des paupières SRD5A3-CDG Schnyder corneal dystrophy Secondary entropion Secondary glaucoma due to a proliferation and differentiation anomaly Secretory apparatus of the lacrimal system anomaly Severe early-childhood-onset retinal dystrophy Snowflake vitreoretinal degeneration Spasmus nutans Spastic ataxia-corneal dystrophy syndrome Spectre de dysplasie septo-optique Spinocerebellar ataxia with oculomotor anomaly Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly Stargardt disease Stickler syndrome Strabisme essentiel Stromal corneal dystrophy Subepithelial mucinous corneal dystrophy Superficial corneal dystrophy Superior limbic keratoconjunctivitis Supranuclear eye movement disorder Sympathetic ophthalmia Syndrome EEM Syndrome GAPO Syndrome IRVAN Syndrome PEHO Syndrome blépharo-cheilo-odontique Syndrome cornéodermatoosseux Syndrome d'Okihiro Syndrome d'Usher type 1 Syndrome d'anomalie de Peters-cataracte Syndrome d'hypomyélinisation-cataracte congénitale Syndrome de Cogan Syndrome de Goldmann-Favre Syndrome de Knobloch Syndrome de Revesz Syndrome de Stickler type 1 Syndrome de Stickler type 2 Syndrome de Tolosa-Hunt Syndrome de cataracte congenitale-microcornée-opacité cornéenne Syndrome de colobome maculaire-brachydactylie type B Syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée Syndrome de dégénérescence rétinienne-microphtalmie-glaucome Syndrome de glaucome-ectopie du cristallin-sphérophakie-raideur articulaire-petite taille Syndrome de microcornée-myopie avec atrophie choriorétinienne-télécanthus Syndrome de microtie-colobome oculaire-imperforation du canal lacrymonasal Syndrome micro Syndrome oculo-auriculaire type Schorderet Syndrome oculo-facio-cardio-dentaire Syndromic aniridia Syndromic cataract Syndromic corneal dystrophy Syndromic hyperopia Syndromic keratoconus Syndromic microphthalmia type 5 Syndromic microphthalmia-anophthalmia-coloboma Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic rod-cone dystrophy Syndromic telecanthus Systemic diseases with anterior uveitis Systemic diseases with posterior uveitis Tarsal kink syndrome Temperature-sensitive oculocutaneous albinism type 1 Thiel-Behnke corneal dystrophy Total early-onset cataract Toxic maculopathy due to antimalarial drugs Triple A syndrome Tritanopia Tumeur de la paupière Tumeur épidermique de la paupière Télangiectasie de la conjonctive Télangiectasie maculaire idiopathique type 1 Unclassified familial retinal dystrophy Usher syndrome Usher syndrome type 2 Usher syndrome type 3 Uvéite Uvéite antérieure Uvéite antérieure non infectieuse Uvéite intermédiaire Uvéite phacoanaphylactique Vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques Vernal keratoconjunctivitis Vitreoretinal degeneration Vitréorétinopathie Vitréorétinopathie exsudative familiale Vogt-Koyanagi-Harada disease WAGR syndrome Wagner disease X-linked cone dysfunction syndrome with myopia X-linked corneal dermoid X-linked retinal dysplasia X-linked retinoschisis