Majority (44/53; 83 %) of the patients had bilateral involvement. 5/9 (44 %) patients with unilateral presentation were amblyopic in the affected eye. [ncbi.nlm.nih.gov]

• Inguinal Hernia

  Both probands had a history of surgery for inguinal hernia; the male patient also reported hydrocele. Nucleotide changes within the coding region of ZEB1 underlie the pathogenesis of PPCD in 4 of 23 Czech probands (17%). [ncbi.nlm.nih.gov]

  Family reports of inguinal hernia, hydrocele, and possible bone anomalies in affected individuals suggest that individuals with TCF8 mutations should be examined for nonocular anomalies. [uniprot.org]

  Only one inguinal hernia was present in our cohort, and did not occur in conjunction with ZEB1 disease. [molvis.org]

• Fishing

  In all the CK19-positive cells, both X and Y chromosomes were simultaneously detected using FISH. [ncbi.nlm.nih.gov]

• Suggestibility

  CONCLUSION: Recent studies suggest that ZEB1 mutations may account for PPCD in 18 to 30% of cases, with the majority of the mutations in exons 5 and 7. [ncbi.nlm.nih.gov]

• Cryptorchidism

  As cryptorchidism has been previously observed in two other PPCD3 cases, its association with the disease warrants further investigation. 2014 John Wiley & Sons Ltd/University College London. [ncbi.nlm.nih.gov]

Descemet's stripping automated endothelial keratoplasty (DSAEK) has recently become the preferred treatment for corneal endothelial dystrophies in adults. [ncbi.nlm.nih.gov]

Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. [ijo.in]

Treatment Treatment Options: Few patients require treatment since the endothelial changes are frequently stable. Among those that do undergo corneal transplantation, the changes often recur in the donor button. [disorders.eyes.arizona.edu]

The factor that most prominently influences keratoplasty prognosis is the presence of iridocorneal adhesions.(ABSTRACT TRUNCATED AT 400 WORDS). [ncbi.nlm.nih.gov]

Treatment and prognosis Most patients with PPMD are asymptomatic and are diagnosed on routine eye exam. These patients usually have a great prognosis and often do not require any treatment. [webeye.ophth.uiowa.edu]

Based on the observations made in this case series, we suggest the possible visual prognosis of patients with unilateral PPCD in the aspect of amblyopia development. [karger.com]

Krachmer JH (1985) Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc 83:413–475 PubMed PubMedCentral Google Scholar 11. [link.springer.com]

The pathological coexistence of PPCD and high myopia in our case is possibly due to a shared etiological pathway or genetic background. Advanced genetic analysis on similar cases is expected if more samples can be provided. [ncbi.nlm.nih.gov]

Etiology PPCD is a genetically heterogenous condition with extremely variable expression. Three genes have been implicated: VSX1 (20p11.21), COL8A2 (1p34.2-p32.3), and ZEB1 (10p11.22), but the evidence implicating VSX1 and COL8A2 is questionable. [orpha.net]

Keywords: Corneal dystrophy, hereditary/etiology; Retinal diseases/etiology; Lens diseases/etiology; Nephritis, hereditary/ complications; Hematuria _________________________________________ 1 University of British Columbia, Children’s Hospital – Vancouver [sboportal.org.br]

An overlap with other clinical phenotypes and PPCD exists, in particular with FECD, the association being strengthened by early reports reporting mutations in the COL8A2 both in PPCD and FECD, suggesting a similar etiology [ 7 ]. [molvis.org]

This is in contrast to other etiologies of congenital corneal clouding like Peter’s anomaly or a limbal dermoid, which can vary in size/location and often obscure underlying iris. [reviewofophthalmology.com]

Summary Epidemiology Prevalence of this form of corneal dystrophy is unknown. Clinical description Lesions generally develop in early childhood and are mostly bilateral but may be asymmetrical or unilateral in some cases. [orpha.net]

Epidemiology Frequency United States The frequency of PPMD is not well documented. Although it is considered to be uncommon, PPMD may be recognized and diagnosed more often in recent years than in the past. [emedicine.medscape.com]

[…] endothelial (ICE) syndrome Macular corneal dystrophy Granular corneal dystrophy Fuchs' dystrophy Interstitial keratitis Primary congenital glaucoma Epithelial down-growth Posterior amorphous corneal dystrophy Pre-Descemet's corneal dystrophy Overview Epidemiology [webeye.ophth.uiowa.edu]

[…] sains Asselineau, Kirwan Iain Frederic; Derkač, Irmantė; Janulevičienė, Ingrida; Veličkienė, Džilda Konferencijų tezės nerecenzuojamuose leidiniuose / Conference theses in non-peer-reviewed publications (T2) 2018 A five-year retrospective study of the epidemiological [lsmuni.lt]

Relevant External Links for VSX1 Genetic Association Database (GAD) VSX1 Human Genome Epidemiology (HuGE) Navigator VSX1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: VSX1 No data available for Genatlas for VSX1 Gene VSX1 mutational [genecards.org]

Pathophysiology Three main abnormalities are described: vesicular changes, endothelial band lesions, and irregular diffuse opacities of the posterior corneal surface involving both the Descemet membrane and the endothelium. [emedicine.medscape.com]

Pathophysiology The pathogenesis of PPMD is attributed to an abnormal developmental differentiation of the endothelial cells [7]. [webeye.ophth.uiowa.edu]

[…] membrane graft fastened to a thermoplastic symblepharon ring The device acts as a self-retaining biological bandage Promotes reepithelialization BioDOptix Amniotic Membrane Insert Dehydrated amniotic membrane graft It should be noted that the underlying pathophysiology [decisionmakerplus.net]

The pathophysiology is a result of inadequate endothelium, and treatment therefore requires replacing the endothelium. [reviewofophthalmology.com]

In support of this, the United States Preventive Services Task Force (2004) recommends vision screening for children younger than 5 years [ 7 ]. [karger.com]

To prevent further erosions, hypertonic solutions during the day or hypertonic ointments at night may be necessary for up to three months. [clspectrum.com]

In the United States, approximately 4,200 persons are affected by a corneal dystrophy, according to research from Prevent Blindness, the National Institute of Special Education and the National Science Foundation. [reviewofoptometry.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

Kim et al. [12] demonstrated that a residual stromal bed of 200 μm prevents endothelial cell damage. [jeos.eg.net]