Autoimmunity, and Retinal detachment

Diseases related with Autoimmunity and Retinal detachment

In the following list you will find some of the most common rare diseases related to Autoimmunity and Retinal detachment that can help you solving undiagnosed cases.


Top matches:

Low match BIRDSHOT CHORIORETINOPATHY


Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

BIRDSHOT CHORIORETINOPATHY Is also known as birdshot retinochoroidopathy|birdshot retinochoroiditis|birdshot chorioretinitis|bscr|vitiliginous choroiditis

Related symptoms:

  • Cataract
  • Visual impairment
  • Blindness
  • Visual loss
  • Photophobia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRDSHOT CHORIORETINOPATHY

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

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Other less relevant matches:

Low match COATS DISEASE


Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

COATS DISEASE Is also known as retinal telangiectasis|congenital retinal telangiectasia|leber miliary aneurysm

Related symptoms:

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COATS DISEASE

Low match AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY


Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.

AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY Is also known as adniv|pvr|vitreoretinopathy, neovascular inflammatory, autosomal dominant|proliferative vitreoretinopathy

Related symptoms:

  • Cataract
  • Edema
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

Low match PERSISTENT HYPERPLASTIC PRIMARY VITREOUS


Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Low match UVEAL MELANOMA


Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

Low match KERATOSIS FOLLICULARIS SPINULOSA DECALVANS


Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Related symptoms:

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

Low match NANOPHTHALMOS 2; NNO2


NANOPHTHALMOS 2; NNO2 Is also known as nanophthalmia 2|nanophthalmos, autosomal recessive

Related symptoms:

  • Microphthalmia
  • Glaucoma
  • Retinal detachment
  • Angle closure glaucoma


SOURCES: MESH OMIM MENDELIAN

More info about NANOPHTHALMOS 2; NNO2

Low match COLOBOMA OF OPTIC NERVE


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA OF OPTIC NERVE

Top 5 symptoms//phenotypes associated to Autoimmunity and Retinal detachment

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Glaucoma Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Retinal detachment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Uveitis Inflammatory abnormality of the eye Vitreoretinopathy Retinopathy Blindness

Rare Symptoms - Less than 30% cases


Phthisis bulbi Nystagmus Vitreous hemorrhage Leukocoria Microcornea Retinal degeneration Corneal opacity Macular edema Cleft palate Sensorineural hearing impairment Edema Epiretinal membrane Photophobia Increased intraocular pressure Abnormality of the retinal vasculature Cystoid macular edema Pendular nystagmus Punctate keratitis Iris coloboma Esotropia Optic nerve hypoplasia Congenital blindness Anterior synechiae of the anterior chamber Buphthalmos Large hyperpigmented retinal spots Bilateral microphthalmos Retinal fold Remnants of the hyaloid vascular system Band keratopathy Shallow anterior chamber Exudative vitreoretinopathy Posterior synechiae of the anterior chamber Persistent pupillary membrane Posterior retinal neovascularization Leakage of dye on fundus fluorescein angiography Peripheral retinal neovascularization Exudative retinal detachment Abnormality of the vasculature Coloboma Abnormal anterior chamber morphology Aplasia/Hypoplasia of the iris Abnormal macular morphology Angle closure glaucoma Ichthyosis follicularis Retinal telangiectasia Exudative retinopathy Iris neovascularization Rubeosis iridis Rod-cone dystrophy Abnormality of the eye Pigmentary retinopathy Abnormality of retinal pigmentation Perifollicular fibrosis Abnormal electroretinogram Tractional retinal detachment Folliculitis Retinal nonattachment Hyphema Follicular hyperkeratosis Sparse scalp hair Dry skin Facial erythema Ichthyosis Palmoplantar keratoderma Entropion Dystrophic fingernails Nail dysplasia Eczema Sparse and thin eyebrow Corneal scarring Abnormality of the nail Conjunctivitis Sparse eyelashes Corneal dystrophy Ectropion Keratitis Absent eyebrow Alopecia of scalp Blepharitis Scarring Hyperkeratosis Neoplasm Scarring alopecia of scalp Carcinoma Nevus Melanoma Basal cell carcinoma Abnormality of refraction Ocular pain Cutaneous melanoma Mydriasis Metamorphopsia Zonular cataract Alopecia Uveal melanoma Photopsia Subretinal fluid Inferior lens subluxation Choroidal melanoma Iris melanoma Ciliary body melanoma Abnormal visual accommodation Choroidal nevus Abnormal fundus morphology Sciatica Telangiectasia Kyphosis Muscle weakness Muscular hypotonia Pain Hypertension Gait disturbance Talipes equinovarus Short neck Respiratory distress Congestive heart failure Malar flattening Growth delay Midface retrusion Hernia Severe short stature Polydactyly Skeletal dysplasia Arthritis Apnea Hyperlordosis Respiratory tract infection Hypertelorism Scoliosis Broad forehead Posterior uveitis Nyctalopia Optic disc pallor Blurred vision Abnormal retinal morphology Attenuation of retinal blood vessels Retinal pigment epithelial atrophy Choroidal neovascularization Retinal thinning Abnormal chorioretinal morphology Macular scar Hearing impairment Vitreous floaters Abnormal choroid morphology Vitritis Macular hole Photoreceptor layer loss on macular OCT Blind-spot enlargment Arcuate scotoma Intellectual disability Short stature Generalized hypotonia Pectus carinatum Hip dislocation Progressive visual loss Flattened epiphysis Short thorax Restrictive ventilatory defect Progressive sensorineural hearing impairment Disproportionate short stature Hypoplasia of the odontoid process Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Cervical myelopathy Bowing of the legs Limited hip movement Retinoschisis Delayed pubic bone ossification Visual impairment Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Abnormal vitreous humor morphology Strabismus Vestibular dysfunction Spondyloepiphyseal dysplasia Platyspondyly High myopia Narrow chest Genu valgum Micromelia Paresthesia Flat face Pulmonary hypoplasia Limitation of joint mobility Waddling gait Limb undergrowth Lumbar hyperlordosis Back pain Osteoarthritis Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Rhizomelia Coxa vara Sleep apnea Growth abnormality Genu varum Optic nerve coloboma



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