Edema, and Retinal detachment

Diseases related with Edema and Retinal detachment

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

Top matches:

Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

CONGENITAL GLAUCOMA Is also known as glaucoma, congenital|buphthalmus|buphthalmos|glc3|primary congenital glaucoma|buphthalmia

Related symptoms:

  • Edema
  • Blindness
  • Visual loss
  • Glaucoma
  • Retinal detachment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL GLAUCOMA

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

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

Other less relevant matches:

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

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

Low match MRCS SYNDROME

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

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

Symptoms // Phenotype % cases
Glaucoma Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Blindness Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Myopia Visual impairment Retinopathy Abnormality of skin pigmentation Pigmentary retinopathy Scoliosis Hearing impairment Sensorineural hearing impairment Macular edema Cystoid macular edema Progressive visual loss Microphthalmia

Rare Symptoms - Less than 30% cases

Seizures Cone/cone-rod dystrophy Chorioretinal atrophy Optic disc pallor Abnormal retinal morphology Choroidal neovascularization High myopia Posterior uveitis Short stature Retinal neovascularization Microcornea Chronic kidney disease Intellectual disability Reduced visual acuity Hypertonia Renal insufficiency Proteinuria Abnormality of the kidney Stage 5 chronic kidney disease Scleral staphyloma Retinal dystrophy Nyctalopia Hydrocephalus Vitreoretinopathy Rod-cone dystrophy Abnormality of the retinal vasculature Joint hyperflexibility Abnormality of retinal pigmentation Hyperextensible skin Increased intraocular pressure Multiple renal cysts Soft skin Inflammatory abnormality of the eye Vitreous hemorrhage Uveitis Epiretinal membrane Megalocornea Hypertension Abnormality of the vasculature Abnormality of the eye Pes planus Inguinal hernia Osteoporosis Umbilical hernia Retinal coloboma Conductive hearing impairment Neonatal hypotonia Visual field defect Myalgia Camptodactyly Hip dislocation Pulmonic stenosis Abnormality of the genitourinary system Arachnodactyly Macular degeneration Multicystic kidney dysplasia Nephritis Abnormality of the dentition Pectus excavatum Orbital cyst Ureteropelvic junction obstruction Pyelonephritis Platybasia Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve coloboma Optic nerve dysplasia Renal malrotation Morning glory anomaly Hydrocele testis Severe vision loss Macular hyperpigmentation Recurrent pyelonephritis Ureterovesical junction obstruction Cleft palate High palate Gait disturbance Elevated serum creatinine High-frequency hearing impairment Arnold-Chiari type I malformation Hernia Joint hypermobility Corneal scarring Bruising susceptibility Neoplasm of the endocrine system Neurofibromas Hamartoma Polycythemia Renal cell carcinoma Exocrine pancreatic insufficiency Subarachnoid hemorrhage Papilledema Neoplasm of the pancreas Hyperaldosteronism Capillary hemangioma Renal neoplasm Facial paralysis Pheochromocytoma Hypokalemia Pancreatic cysts Paraganglioma Carcinoid tumor Adrenal pheochromocytoma Epididymal cyst Papillary cystadenoma of the epididymis Retinal capillary hemangioma Cerebellar hemangioblastoma Pulmonary capillary hemangiomatosis Hemangioblastoma Spinal hemangioblastoma Secondary hyperaldosteronism Hypercalcemia Tinnitus Recurrent fractures Nephrolithiasis Hip dysplasia Mitral valve prolapse Blue sclerae Abnormality of epiphysis morphology Congenital hip dislocation Cutis laxa Corneal dystrophy Increased susceptibility to fractures Hallux valgus Keratoconus Sclerocornea Corneal erosion Shoulder dislocation Hemangioma Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Neoplasm Pain Dilatation Carcinoma Abnormality of the liver Vertigo Renal cyst Nevus Horseshoe kidney Cerebellar hypoplasia Renal dysplasia Blind-spot enlargment Attenuation of retinal blood vessels Retinal pigment epithelial atrophy Retinal thinning Abnormal chorioretinal morphology Macular scar Vitreous floaters Abnormal choroid morphology Vitritis Macular hole Photoreceptor layer loss on macular OCT Arcuate scotoma Autoimmunity Muscle weakness Ptosis Proximal muscle weakness Limb muscle weakness Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Neurodevelopmental delay Congenital nystagmus Miosis Congenital nephrotic syndrome Blurred vision Photophobia Microcoria Leukocoria Congenital glaucoma Striae distensae Nevus flammeus Buphthalmos Primary congenital glaucoma Late onset congenital glaucoma Telangiectasia Abnormal anterior chamber morphology Aplasia/Hypoplasia of the iris Abnormal macular morphology Phthisis bulbi Posterior retinal neovascularization Retinal telangiectasia Exudative retinal detachment Exudative retinopathy Rubeosis iridis Retinal degeneration Abnormal electroretinogram Tractional retinal detachment Leakage of dye on fundus fluorescein angiography Iris neovascularization Peripheral retinal neovascularization Large hyperpigmented retinal spots Limited extraocular movements Abnormality of the skeletal system Abnormality of the genital system Cortical gyral simplification Intellectual disability, severe Cerebral atrophy Cerebral cortical atrophy Protruding ear Sloping forehead Pachygyria Lymphedema Pointed chin Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Biparietal narrowing Optic atrophy Abnormal eyelash morphology Retinal fold Chorioretinal dysplasia Hydronephrosis Joint laxity Coloboma Confusion Nephropathy Gliosis Vesicoureteral reflux Renal hypoplasia Anteverted nares Intrauterine growth retardation Congenital cataract Retinal arteriolar constriction Astigmatism Hypopigmentation of the skin Abnormality of color vision Macular atrophy Retinal atrophy Dyschromatopsia Cone dysfunction syndrome Shallow anterior chamber Pulverulent cataract Presenile cataracts Moderate myopia Peripheral retinal atrophy Wide nasal bridge Posterior staphyloma Optically empty vitreous Angle closure glaucoma Chorioretinal hypopigmentation Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Global developmental delay Generalized hypotonia Microcephaly Spasticity Hyperreflexia Neoplasm of the ear


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