Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. [uniprot.org]

Endothelial cell loss, if severe, can cause endothelial cell density to fall below the threshold level needed to maintain corneal deturgescence. [wikivisually.com]

Bahn CF, Falls HF, Varley GA. Classification of corneal endothelial disorders based on neural crest origin Ophthalmology 1984;91:558–563. PubMed Google Scholar 9. Barber AE. Embryology of the human eye. St. Louis: Mosby, 1955. Google Scholar 10. [link.springer.com]

[…] stationary); Nijmegen breakage syndrome; Noncompaction of left ventricular myocardium; Nonepidermolytic palmoplantar keratoderma; Norrie disease; Norum disease; Nucleoside phosphorylase deficiency; Obesity; Occipital hornsyndrome; Ocular albinism (Nettleship-Falls [ic.gc.ca]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Genetic counselors are non-physician members of the medical team who specialize in family risk assessment. [wikivisually.com]

Be prepared to manage unavoidable complications with Phaco Nightmares: Conquering Cataract Catastrophes. Dr. [books.google.com]

septal defect with atrioventricular conduction defects; Atrichia with papular lesions; Autism (succinylpurinemic); Autoimmune polyglandular disease, type I; Autonomic nervous system dysfunction; Axenfeld anomaly; Azoospermia; Bamforth-Lazarus syndrome [ic.gc.ca]

The surgical procedure consisted of a central 7-mm corneal transplant in the 11-mm cornea with removal of all of the iris and an extracapsular cataract extraction of the nondislocated lens that left the posterior capsule and vitreous intact. [docslide.com.br]

Maximum-likelihood analysis for linkage between ASMD1 and 14 biochemical and serological markers in the family showed a probable linkage between ASMD1 and the MNS blood group on the long arm of chromosome 4 (Z 2.36 at a recombination fraction of .09). [ncbi.nlm.nih.gov]

For example, the locus for autosomal dominant anterior segment mesenchymal dysgenesis was found recently to be linked to MNS on the long arm of chromosome 4 (q28 q31). [healio.com]

Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({4:Gould and John, 2002}). [diseaseinfosearch.org]

Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. [uniprot.org]

Clinical Characteristics Ocular Features: The unique status of this entity remains to be established as there are overlapping features with aniridia ( 106210 ), and Peters anomaly ( 604229 ), posterior embryotoxon, and iridogoniodysgenesis type 1 ( 601631 [disorders.eyes.arizona.edu]

FIGURE 3: Variable expressivity in family with AD-Aniridia. A. Case IV-1: Virtually total aniridia (left eye) (The right eye of this patient is Figure 2A of Reference 9.) B. Case III-6: Iris thinning with round pupil /left eye). [healio.com]

Both the infant and her mother were suffering from congenital glaucoma and aniridia. [cags.org.ae]

The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. [diseaseinfosearch.org]

Schwalbe line is often anteriorly placed and there may be iris adhesions to the cornea, with or without corneal opacities. Some patients have microcornea. [disorders.eyes.arizona.edu]

It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. [ipfs.io]

Fig. 1: Bilateral corneal opacities at 2 days of age. [webeye.ophth.uiowa.edu]

The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between [diseaseinfosearch.org]

lentis, and anterior synechiae between the iris and posterior corneal surface. [uniprot.org]

Ectopia lentis (displacement of the lens). Aphakia (absent lens). Cataracts. Anterior synechiae (when the iris adheres to the cornea). Posterior keratoconus (thinning of the cornea). [rarediseases.info.nih.gov]

Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry EDICT Syndrome Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, And [ukgtn.nhs.uk]

lentis; Ectopia pupillae; Ectrodactyly (ectodermal dysplasia, and cleft lip/palate syndrome 3); Ehlers-Danlos syndrome (progeroid form); Ehlers-Danlos syndrome (type I; type II; type Ill; type IV; type VI; type VII); Elastin Supravalvar aortic stenosis [ic.gc.ca]

It is characterized by adolescent onset, central visual impairment and the frequent appearance of orange-yellow flecks. Other inherited macular dystrophies include Sorsby fundus dystrophy. [centogene.com]

This infant is now severely visually impaired. The other (Patient V-27) (Figs. 2, bottom right, and 3, right) un-derwent corneal transplantation in the right eye at the age of 6 weeks and experienced subsequent graft rejection. [docslide.com.br]

All layers of the cornea are dysplastic from the epithelium to the endothelium suggesting abnormal migration or function of neural crest cells. Lens opacities are highly variable but they can be progressive. [disorders.eyes.arizona.edu]

Bower has suggested that PPMD might be linked to Alport syndrome. [9] It rarely presents with corneal clouding at birth. [emedicine.medscape.com]

Suggested Citation format Chang E, Vislisel J, Larson, SA. Peters Anomaly. EyeRounds.org. June 30, 2014; available from last updated: 06/30/2014, revised 2/5/2016 [webeye.ophth.uiowa.edu]

An animal model of cornea plana has been created by knock-out of the mouse keratocan gene, and analysis suggests that keratocan mutations in humans result in larger, less organized collagen fibrils in the stroma, which leads to the disease phenotype. [entokey.com]

This suggested a suppression of the first migratory wave of mesenchyme. However, his corneal keratocytes and iris stromal components were normal and, therefore, the second and third migratory waves had not been affected. [docslide.com.br]