Symptoma

Bullous Dystrophy Type Macular

KS

This case also presents unusual skin eruptions in RSD. [anesthesiology.pubs.asahq.org]

Poor prognostic factors in APMPPE are: Foveal involvement at the initial presentation Age greater than 60 Unilateral presentation. [kjophthal.com]

Bullous keratopathy after cataract removal is called pseudophakic (if an intraocular lens implant is present) or aphakic (if no intraocular lens implant is present) bullous keratopathy. [merckmanuals.com]

Abnormal electrooculographic (EOG) findings are universally present in patients with Best's disease regardless of the clinical presentation, and are thus decisive in the differential diagnosis. [reviewofophthalmology.com]

  • Disability

    Bullous Dystrophy) Source: Atlas of X-Linked Intellectual Disability Syndromes (2 ed.) [oxfordmedicine.com]

    Affiliated tissues include skin, and related phenotypes are intellectual disability and microcephaly [malacards.org]

    Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death in childhood; Hyperpigmentation of the skin; Intellectual disability [mousephenotype.org]

    Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Acrocyanosis MedGen UID: 65138 • Concept ID: C0221347 • Finding Persistent, symmetric, and painless blue discoloration of the extremities. [ncbi.nlm.nih.gov]

    disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  • Short Stature

    Severe short stature MedGen UID: 3931 • Concept ID: C0013336 • Congenital Abnormality A genetic or pathological condition that is characterized by short stature and undersize. [ncbi.nlm.nih.gov]

    Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

    stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare [rarediseases.info.nih.gov]

  • Short Finger

    [pmid:19125433] Short finger MedGen UID: 334977 • Concept ID: C1844548 • Finding Abnormally short finger associated with developmental hypoplasia. [ncbi.nlm.nih.gov]

    BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death in childhood; Hyperpigmentation of the skin; Intellectual disability; Microcephaly; Severe short stature; Short [mousephenotype.org]

    finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  • Death in Childhood

    Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death [mousephenotype.org]

    […] in childhood 0003819 Hyperpigmentation of the skin Patchy darkened skin 0000953 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 [rarediseases.info.nih.gov]

  • Multiple Congenital Anomalies

    congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome [se-atlas.de]

  • Acrocyanosis

    Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Acrocyanosis MedGen UID: 65138 • Concept ID: C0221347 • Finding Persistent, symmetric, and painless blue discoloration of the extremities. [ncbi.nlm.nih.gov]

    Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

    Disease: Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia [mousephenotype.org]

  • Cardiomegaly

    X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cardiomegaly-congestive [se-atlas.de]

  • Blister

    The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously. [checkorphan.org]

    Showing of 14 Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal blistering of the skin Blistering, generalized Blisters [ more ] 0008066 Abnormality of the nail 0001597 Acrocyanosis Persistent blue color of hands [rarediseases.info.nih.gov]

  • Alopecia

    The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the [ncbi.nlm.nih.gov]

    Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

    Disease: Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia [mousephenotype.org]

  • Hyperpigmentation

    Hyperpigmentation of the skin MedGen UID: 57992 • Concept ID: C0162834 • Pathologic Function A darkening of the skin related to an increase in melanin production and deposition. [ncbi.nlm.nih.gov]

    Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

  • Small Head

    Overview Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. [checkorphan.org]

    head circumference [ more ] 0000252 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 30%-79% of people have these symptoms Abnormality of the genital system Genital abnormalities Genital abnormality Genital anomalies Genital defects [rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.de]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Symptoms * Patches of increased skin pigmentation * Patches of reduced skin pigmentation * Sparse scalp hair * Absent scalp hair * Blisters Prognosis The 'prognosis' of Bullous dystrophy, macular type usually refers to the likely outcome of Bullous dystrophy [checkorphan.org]

PMID: 308291 Prognosis Turrentine JE, Gordon KA, Agim NG JAMA Dermatol 2016 Jun 1;152(6):713-4. doi: 10.1001/jamadermatol.2016.0061. [ncbi.nlm.nih.gov]

These entities typically occur in midlife and carry a good visual prognosis in at least one eye. [reviewofophthalmology.com]

Prognosis The natural history is that this disease almost never progresses from where it's first observed. Most people with senile retinoschisis do well and can be followed without intervention. [eyewiki.aao.org]

Patients with CREST syndrome have a better prognosis. Differential diagnosis includes diabetic sclerodema, scleromyxedema, and chronic graft-versus-host disease. [clevelandclinicmeded.com]

Etiology JAMA Dermatol 2016 Jun 1;152(6):713-4. doi: 10.1001/jamadermatol.2016.0061. PMID: 26963772 Tarantino-Scherrer JN, Kaufmann C, Bochmann F, Bachmann LM, Thiel MA Cornea 2015 Sep;34(9):1024-9. doi: 10.1097/ICO.0000000000000538. [ncbi.nlm.nih.gov]

Incidence/Prevalence: Macular dystrophy is much less common than BIGH3 dystrophies Etiology: Macular dystrophy exhibits an autosomal recessive pattern of inheritance. [missionforvisionusa.org]

Exudative hemorrhagic periphlebitis in a patient with uveitis is highly suggestive of tubercular etiology. [kjophthal.com]

Table 1 also shows the patient profiles of 2 groups and the CME occurrence rates by etiology. There was no correlation between the etiology and the occurrence of CME (P 0.72). [journals.lww.com]

ETIOLOGY  Corneal endothelial damage  Intraocular inflammation  Vitreous or subluxation intraocular lens  Preexisting endothelial dysfunction 14. [slideshare.net]

This phenotype also shares with AMD several epidemiological, clinical, and histopathological features. [reviewofophthalmology.com]

Pathology, Optometry: Open Access, Glaucoma: Open Access, International Journal of Ophthalmic Pathology, Optometry: Open Access, Glaucoma: Open Access, Journal-Ophthalmology and Eye Diseases, Journal of Eye Diseases, Current Eye Research, Ophthalmic Epidemiology [omicsonline.org]

Diagnosis: Pseudophakic Bullous Keratopathy (PBK) EPIDEMIOLOGY Incidence: approximately 1-2% of post-cataract surgery patients Incidence with iris-fixated, iris-plane and closed-loop anterior chamber IOLs may reach as high as 10% Patients with underlying [webeye.ophth.uiowa.edu]

American Journal of Epidemiology. 173 (11): 1246–55. doi:10.1093/aje/kwr005. PMID 21422060. Parekh N, Voland RP, Moeller SM, Blodi BA, Ritenbaugh C, Chappell RJ, et al. (November 2009). [en.wikipedia.org]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]

Novel diagnostic tools such as fundus autofluorescence imaging have led to an increasing understanding of pathophysiologic mechanisms in retinal degeneration. [reviewofophthalmology.com]

We employed a linkage mapping approach as a first step towards positional cloning of the pallido-ponto-nigral degeneration (PPND) disease gene and a better understanding of the pathophysiological differences between PPND and other forms of hereditary [academic.oup.com]

The pathophysiology of geographic atrophy is still uncertain. [en.wikipedia.org]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

To prevent this from occurring and to initiate preventive strategies earlier in the disease process, dark adaptation testing may be performed. [en.wikipedia.org]

Wearing contact lenses is often used as early treatment of keratoconus, but can become difficult as the disease progresses and distorts the shape of the cornea, preventing the lens from fitting properly. [visiontexas.com]

Pseudophakic cystoid macular edema prevention and risk factors; prospective study with adjunctive once daily topical nepafenac 0.3% versus placebo. BMC Ophthalmol. 2017;17:16. 3. Framme C, Wolf S. [journals.lww.com]

There is no known prevention for Fuchs' dystrophy. 2. What Causes It? Fuchs' dystrophy can have a genetic cause, but it also can occur without a previous family history of the disease. In many cases, the cause is unknown. 3. [allaboutvision.com]