Diagnoslista/länkar

Retinitis pigmentosa ORPHA:791

Retinitis pigmentosa, tidig form

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/retinitis-pigmentosa-tidig-form/

Leber congenital amaurosis ORPHA:65

Syndromic rod-cone dystrophy ORPHA:98661

Cohen syndrome ORPHA:193

Joubert syndrome with oculorenal defect ORPHA:2318

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/jouberts-syndrom/

Usher syndrome ORPHA:886
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/ushers-syndrom/

Alström syndrome ORPHA:64
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/alstroms-syndrom/

Bardet-Biedl syndrome ORPHA:110
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/bardet-biedls-syndrom/

Choroideremia ORPHA:180

Progressive cone dystrophy ORPHA:1871

Best vitelliform macular dystrophy ORPHA:1243

Bests vitelliforma makuladystrofi

Bests vitelliforma makuladystrofi - Socialstyrelsen https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/bests-vitelliforma-makuladystrofi/

Pattern dystrophy ORPHA:63454

Cone rod dystrophy ORPHA:1872

Stargardt disease ORPHA:827

Color-vision disease ORPHA:98658

Achromatopsia ORPHA:49382

Stickler syndrome ORPHA:828

X-linked retinoschisis ORPHA:792

Familial exudative vitreoretinopathy ORPHA:891

Congenital stationary night blindness ORPHA:215

Hereditary optic neuropathy ORPHA:98671

Leber hereditary optic neuropathy ORPHA:104

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/lebers-hereditara-optikusneuropati/

Autosomal dominant optic atrophy ORPHA:98672

Autosomal recessive isolated optic atrophy ORPHA:98676

Syndromic optic nerve hypoplasia ORPHA:137905

Syndromic hereditary optic neuropathy ORPHA:441434

Leigh syndrome ORPHA:506

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/leighs-syndrom/

Neuro-ophthalmological disease ORPHA:140653

Craniostenosis with strabismus ORPHA:98684

Rare oculomotor nerve disorder ORPHA:98685

Supranuclear eye movement disorder ORPHA:98687

Oculomotor apraxia ORPHA:98688

Balint syndrome ORPHA:363746

Holmes-Adie syndrome ORPHA:454718

Progressive supranuclear palsy ORPHA:683

Atypical progressive supranuclear palsy syndrome ORPHA:99750

Classic progressive supranuclear palsy syndrome ORPHA:240071

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112

Progressive supranuclear palsy-parkinsonism syndrome ORPHA:240085

Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103

Rare disorder with ptosis ORPHA:98578

3MC syndrome ORPHA:293843

Marcus-Gunn syndrome ORPHA:91412

Septopreoptic holoprosencephaly ORPHA:280195

Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406

Syndromic hereditary optic neuropathy ORPHA:441434

Syndromic optic nerve hypoplasia ORPHA:137905

Autosomal dominant optic atrophy plus syndrome ORPHA:1215

Neuromyelitis optica ORPHA:71211

Pediatric-onset glaucoma of genetic origin ORPHA:359

Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634

Axenfeld-Rieger syndrome ORPHA:782

Axenfeldt-Riegers syndrom

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/axenfeld-riegers-syndrom/

Isolated aniridia ORPHA:250923

Syndromic aniridia ORPHA:98557

Kongenital aniridi

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/kongenital-aniridi/

Peters anomaly ORPHA:708

Congenital glaucoma ORPHA:98976

Primärt kongenitalt glaukom

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/primart-kongenitalt-glaukom/

Juvenile glaucoma ORPHA:98977

Developmental defect of the eye ORPHA:98553

Microphthalmia-anophthalmia-coloboma ORPHA:98555

Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948

Coloboma of choroid and retina ORPHA:98942

Coloboma of eye lens ORPHA:98943

Coloboma of iris ORPHA:98944

Coloboma of macula ORPHA:98945

Coloboma of eyelid ORPHA:98946

Coloboma of optic disc ORPHA:98947

Coloboma of superior eyelid ORPHA:155884

Coloboma of inferior eyelid ORPHA:155889

Septo-optic dysplasia spectrum ORPHA:3157

Rare palpebral disorder ORPHA:98560

Rare disorder of the lacrimal apparatus ORPHA:98602

Rare disorder with conjunctival involvement as a major feature ORPHA:98610

Rare palpebral disorder ORPHA:98560

Congenital ptosis ORPHA:91411

Rare disorder of the lacrimal apparatus ORPHA:98602

Rare lens disease ORPHA:98639

Early-onset non-syndromic cataract ORPHA:91492

Syndromic cataract ORPHA:98641

Norrie disease ORPHA:649

Coats plus syndrome ORPHA:313838

Vitreoretinopathy ORPHA:98668

X-linked retinoschisis ORPHA:792

Familial exudative vitreoretinopathy ORPHA:891

 Oculocutaneous or ocular albinism ORPHA:98706

Oculocutaneous albinism ORPHA:55

Ocular albinism ORPHA:284804

Syndromic oculocutaneous albinism ORPHA:284811

Albinism

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/albinism/

Marfan syndrome ORPHA:558

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/marfans-syndrom/

Pediatric-onset glaucoma of genetic origin ORPHA:359

Juvenile glaucoma ORPHA:98977

Corneal dystrophy ORPHA:34533

Superficial corneal dystrophy ORPHA:98625

Stromal corneal dystrophy ORPHA:98626

Posterior corneal dystrophy ORPHA:98627

Syndromic corneal dystrophy ORPHA:98628

Rare disorder with conjunctival involvement as a major feature ORPHA:98610

Rare refraction anomaly ORPHA:98618

Rare disease with glaucoma as a major feature ORPHA:98638

Rare lens disease ORPHA:98639

Marfan syndrome ORPHA:558

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/marfans-syndrom/

Metabolic disease with cataract ORPHA:98644

Syndromic keratoconus ORPHA:98623