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Retinal Pigmentary Dystrophy

Fundus Albipunctatus


Presentation

  • This leads to the symptoms of the Mainzer-Saldino Syndrome Since cilia are present in multiple organs in the body, the symptoms of the disorder can include malfunctions of several body organs.[dovemed.com]
  • Patients with any pattern dystrophy of the RPE may present with drusen-like deposits and pigmentary changes.[optometricmanagement.com]
  • Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia.[uniprot.org]
  • JNCL is an autosomal recessive neurodegenerative disease presenting in childhood, characterized by relatively rapid vision loss and neurologic decline.[reviewofophthalmology.com]
  • Pattern dystrophies represent a group of disorders that present in midlife with mild visual disturbances in one or both eyes.[retinaeyecenter.com]
Juvenile Cataract
  • The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal[ncbi.nlm.nih.gov]
  • cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0001118 5 uncombable hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0030056 6 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069 7 oligodontia 60 33 frequent (33%)[malacards.org]
  • Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly Synonyms BORK SYNDROME Classification developmental, eye, genetic, skin Phenotypes Autosomal dominant inheritance ; Brachydactyly ; Hypospadias ; Increased number of teeth ; Juvenile[mousephenotype.org]
Microdontia
  • 60 33 frequent (33%) Frequent (79-30%) HP:0011069 7 oligodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000677 8 short 5th metacarpal 60 33 occasional (7.5%) Occasional (29-5%) HP:0010047 9 abnormality of the dentition 60 Very frequent (99-80%) 10 microdontia[malacards.org]
  • Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly Synonyms BORK SYNDROME Classification developmental, eye, genetic, skin Phenotypes Autosomal dominant inheritance ; Brachydactyly ; Hypospadias ; Increased number of teeth ; Juvenile cataract ; Microdontia[mousephenotype.org]
Brachydactyly
  • Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly.[malacards.org]
  • The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal[ncbi.nlm.nih.gov]
  • Name Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly Synonyms BORK SYNDROME Classification developmental, eye, genetic, skin Phenotypes Autosomal dominant inheritance ; Brachydactyly ; Hypospadias ; Increased number[mousephenotype.org]
  • […] hypogenitalism syndrome RHYNS syndrome Saldino-Mainzer dysplasia Spastic tetraplegia Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Tapetoretinal dystrophy Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly[icdlist.com]
Retinal Pigmentation
  • RESULTS: Funduscopic examination revealed abnormalities of retinal pigmentation in ten subjects (77%).[ncbi.nlm.nih.gov]
  • Elfatoiki FZ, Cordoliani F, Pascal Regane P, Afforitit-Demoge A Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.[medicbind.com]
  • Bilateral symmetrical sectoral retinal pigmentation. Br. J. Ophthalmol. 50: 734 (1966). PubMed CrossRef Google Scholar Berson, E. L. & J. Howard. Temporal aspects of the electroretinogram in sector retinitis pigmentosa. Arch.[link.springer.com]
  • pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703 2 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006 3 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156 4 juvenile cataract 60 33 hallmark (90%)[malacards.org]
Spastic Quadriplegia
  • quadriplegia, and mental retardation, Spinocerebellar ataxia EMC1 recessive retinitis pigmentosa EYS Retitinis pigmentosa FAM161A Retitinis pigmentosa FLVCR1 Ataxia, posterior column, with retinitis pigmentosa FSCN2 dominant retinitis pigmentosa; dominant[molecularvisionlab.com]

Workup

  • Further workup was directed at identifying the nature of his apparent retinal dystrophy. OCT showed an abnormal foveal contour with macular thinning and photoreceptor loss in both eyes ( See Figure 2 ).[reviewofophthalmology.com]

Treatment

  • treatment, prevention, prognosis, and additional useful information HERE .[dovemed.com]
  • 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.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery.[books.google.com]

Prognosis

  • […] prompt treatment of MSS can help improve one’s quality of life Please find comprehensive information on Mainzer-Saldino Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • The prognosis for maintaining good vision is favorable with this type. The elevated foveal lesions generally fade and leave an irregular oval or round area of RPE depigmentation.[retinaeyecenter.com]
  • The prognosis for pattern dystrophies is good, with patients maintaining reading-level vision in at least one eye throughout the remainder of their life. 3 This patient has not yet returned to the clinic. OM References available upon request.[optometricmanagement.com]
  • The prognosis for such patients is usually good with a reduction of IOP either with medical treatment or spontaneously over time.[jovr.org]
  • Prognosis There is no known cure for RP, which will eventually lead to blindness. The more severe forms will lead to blindness sooner than milder forms. Resources Periodicals "Grant Boosts RP Research Into Transplantation."[medical-dictionary.thefreedictionary.com]

Etiology

  • Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.com]
  • While the exact genetic etiology for the link between myotonic dystrophy and pattern dystrophy remains unclear, this patient’s case further demonstrates their association.[webeye.ophth.uiowa.edu]
  • The presence of different pattern dystrophies within the same family suggests a common etiologic continuum.[retinaeyecenter.com]
  • They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical.[atlasrleye.com]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • Dystrophy, Dental Anomalies, and Brachydactyly 58 Bork Syndrome 58 60 Uncombable Hair-Retinal Pigmentary Dystrophy-Dental Anomalies-Brachydactyly Syndrome 60 Tricho-Retino-Dento-Digital Syndrome 60 Bork Stender Schmidt Syndrome 74 Characteristics: Orphanet epidemiological[malacards.org]
  • Differential Diagnosis Best disease Age-related macular degeneration Central serous retinopathy Pigment epithelial detachment Stargardt disease Dominant drusen (Malattia Leventinese) Epidemiology The incidence is unknown as the majority of patients are[webeye.ophth.uiowa.edu]
Sex distribution
Age distribution

Pathophysiology

  • 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.com]
  • Elfatoiki FZ, Cordoliani F, Pascal Regane P, Afforitit-Demoge A Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.[medicbind.com]
  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D.[rarediseases.org]
  • For this reason, electronegative ERG response reflects any pathophysiological process that prevents electrical signals reaching to ON-bipolar cells. This phenomenon is called postphotoreceptoral transmission defect.[intechopen.com]

Prevention

  • The pigmentary retinopathy does not prevent diabetic retinopathy; a single subject had funduscopic and electrophysiologic evidence of both diseases.[ncbi.nlm.nih.gov]
  • […] diagnosis and prompt treatment of MSS can help improve one’s quality of life Please find comprehensive information on Mainzer-Saldino Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]
  • At present, there are no treatment modalities to prevent disease progression.[atlasrleye.com]
  • A small proportion of cases are due to a gene mutation that prevents retinaldehyde from being converted to the form used by retinal photoreceptors. Some recessive forms are caused by mutations in ABCA4 GENES.[medical-dictionary.thefreedictionary.com]
  • ., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.[blindness.org]

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