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Cataract - Microcornea Syndrome

Early-Onset Non-Syndromic Cataract


Presentation

  • The "fan-shaped cataract" observed in the present family has not been reported before.[ncbi.nlm.nih.gov]
  • Abnormal presentation of Peters’ anomaly in a family with microcornea cataract syndrome Abstract A case of Peters’ anomaly with bilateral crease on ear lobule and hypospadius was reported in a family with microcornea, cataract syndrome.[ajol.info]
  • JP Medical Ltd, 31.03.2012 - 548 Seiten The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms.[books.google.de]
  • JP Medical Ltd, 31 Mar 2012 - Medical - 548 pages The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms.[books.google.com]
  • Inherited cataract commonly presents in an isolated fashion, a component of other ocular disorders, or a part of systemic syndromes.[molvis.org]
Respiratory Distress
  • CONCLUSIONS: Mutations in the human ABCA3 gene were associated with lethal respiratory distress.[ncbi.nlm.nih.gov]
Photosensitivity
  • […] progressive polymorphic cortical AD 3 8 CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy AR 1 1 CYP27A1 Cerebrotendinous xanthomatosis AR 69 110 EPHA2 Cataract 6, multiple types AD 7 20 ERCC2 Xeroderma pigmentosum, Trichothiodystrophy, photosensitive[blueprintgenetics.com]
Progressive Sensorineural Deafness
  • sensorineural deafness, Deafness, autosomal dominant 17 AD 25 117 NDP Exudative vitreoretinopathy, Norrie disease XL 31 167 NF2 Schwannomatosis, Neurofibromatosis AD 66 433 NHS Nance-Horan syndrome, Cataract XL 36 52 OCRL Lowe syndrome, Dent disease[blueprintgenetics.com]

Treatment

  • More Types of Cataract microcornea syndrome » Diagnosis See also related information on diagnosis: Diagnosis of Cataracts Treatments See also the following treatment articles: Treatments for Cataracts Causes See also causal information: Causes of Cataracts[familydiagnosis.com]
  • You can help by adding to it. ( September 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( September 2017 ) References [ edit ] "OMIM Entry - # 116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1". omim.org.[en.wikipedia.org]
  • Treatment - Cataract microcornea syndrome Cataract surgery has to be performed in order to restore visual acuity and avoid amblyopia. Resources - Cataract microcornea syndrome[checkorphan.org]
  • 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]

Prognosis

  • Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good.[checkorphan.org]
  • Prognosis Visual acuity after uncomplicated cataract extraction is relatively good. Last updated: 10/25/2007 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov]
  • Prognosis The recent recognition of CCFDN as a novel disease entity, and the lack of prospective follow-up does not allow an evidence-based prognosis regarding life expectancy.[ojrd.biomedcentral.com]
  • In generalized sclerocornea, early keratoplasty should be considered to provide vision, although the prognosis is guarded. [2] It has been argued that the term “sclerocornea” should be regarded only as a sign but not a diagnosis.[emedicine.medscape.com]

Etiology

  • Etiology There is marked genetic heterogeneity. Mutations have been described in several crystallin genes ( CRYAA, CRYBB1, CRYGD ), and in the gap junction protein alpha 8 gene ( GJA8 ).[rarediseases.info.nih.gov]
  • The Smith-Lemli-Opitz syndrome: a detailed pathological study as a clue to an etiological heterogeneity. Virchows Arch A 1984; 404 :413–25. 37 Donnai D, Young ID, Owen WG, Clark SA, Miller PF, Knox WF.[nature.com]
  • PMID: 27878435 Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis. Messina-Baas O, Cuevas-Covarrubias SA. Mol Syndromol. 2017 Mar;8(2):58-78.[bredagenetics.com]

Epidemiology

  • […] mellitus Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology To date, more than 15 families showing microcornea-cataract syndrome have been described.[rarediseases.info.nih.gov]
  • The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978; 44 :227–75. 82 Kitsiou Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. Unusual ocular findings in an infant with cri-du-chat syndrome.[nature.com]
  • Developmental delay Small stature and low weight Hypo/demyelinating neuropathy Mild facial dysmorphism Mild hypogonadism Additional criteria Mild cognitive deficit Cerebral and spinal cord atrophy on neuroimaging Post-infectious rhabdomyolysis Osteoporosis Epidemiology[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Prevention

  • Prevention - Cataract microcornea syndrome Not supplied. Diagnosis - Cataract microcornea syndrome Prognosis - Cataract microcornea syndrome Visual acuity after uncomplicated cataract extraction is relatively good.[checkorphan.org]
  • Cataract surgery can be performed in order to restore visual acuity and prevent the development of amblyopia. It is observed that visual acuity after extraction of uncomplicated cataract is relatively good.[xpertdox.com]
  • Vaccination before pregnancy can prevent the congenital rubella syndrome.[nejm.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Under short-term treatment plan, meticulous preventive treatments including preventive resin restorations were given in 36 and 46 and the patient was professionally monitored regularly to reinforce preventive treatments.[contempclindent.org]

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