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Keratoconus Posticus Circumscriptus


Presentation

  • The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. Am J Ophthalmol. 1961 Jul;52:53-7.[disorders.eyes.arizona.edu]
  • Cleft lip and palate can be present and scoliosis sometimes develops as a result of vertebral anomalies. Genetics: The etiology of this condition is unknown but the rare familial cases reported suggest autosomal recessive inheritance.[disorders.eyes.arizona.edu]
  • Evidence of localised endothelial failuer manifesting as stromal and epithelial oedema with bullae formation in the area of corneal thinning was present in our case.[ijo.in]
  • The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. Am J Ophthalmol. 1961 Jul; 52 :53–57. [ PubMed ] [ Google Scholar ] Townsend WM. Congenital corneal leukomas. 1.[ncbi.nlm.nih.gov]
  • Case presentation A 6-week old African-American male presented for an ophthalmologic evaluation for a right corneal opacity noted at birth by a neonatologist (Fig. 1 ).[bmcophthalmol.biomedcentral.com]
Developmental Delay
  • delay ; Growth delay ; Hypertelorism ; Keratoconus ; Limited elbow extension and supination ; Recurrent urinary tract infections ; Short neck ; Vesicoureteral reflux ; Webbed neck Associated Genes - Mouse Orthologs - Source OMIM:244600 (names, synonyms[test.mousephenotype.org]
  • Developmental delays and mental retardation are common. Cleft lip and palate can be present and scoliosis sometimes develops as a result of vertebral anomalies.[disorders.eyes.arizona.edu]
  • Developmental delays and mental retardation are usually features. Other variable anomalies have been reported. Genetics Autosomal recessive inheritance seems most likely in view of the family patterns.[disorders.eyes.arizona.edu]
  • delay, mild MISCELLANEOUS: Variable penetrance; Based on description of 1 family (last curated April 2006) Description Haney and Falls (1961) described affected brother and sister with associated manifestations in the form of retarded mental and physical[findzebra.com]
Short Stature
  • Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs. J Med Genet. 1982 Oct;19(5):332-6. Haney WP, Falls HF.[disorders.eyes.arizona.edu]
  • These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies.[ncbi.nlm.nih.gov]
  • Her mother had short stature (153 cm), highly arched palate, and brachydactyly and clinodactyly identical to her daughter and grandson.[findzebra.com]
Weakness
  • Possibly, the endothelial decompensation was caused by vitreous touch and raised IOP caused aseptic perforation in a weak thin zone.[ijo.in]
Cerebral Palsy
  • ., 3rd MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME. J Pediatr. 1965 Sep; 67 :387–398. [ PubMed ] [ Google Scholar ] Mietens C, Weber H.[ncbi.nlm.nih.gov]
Short Finger
  • Growth delay is common and many are short in stature with short fingers and limbs. The neck is often short as well and the hairline in back is low. Developmental delays and mental retardation are common.[disorders.eyes.arizona.edu]
Pneumonia
  • D 2019 18 Genomic characterization of a KPC-23-producing Klebsiella pneumoniae ST258 clinical isolate resistant to ceftazidime-avibactam. ( 30928562 ) Galani I...Souli M 2019 19 Disruption of KPC-producing Klebsiella pneumoniae membrane via induction[malacards.org]
  • Quale Antimicrobial agents and chemotherapy 2005 Among 257 isolates of Klebsiella pneumoniae collected in Brooklyn, NY, 24% were found to possess bla(KPC). Clinical microbiology… (More) Phillip B.[semanticscholar.org]
Brachydactyly
  • Name Keratoconus Posticus Circumscriptus Synonyms KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED Classification unclassified Phenotypes Abnormal vertebral segmentation and fusion ; Autosomal recessive inheritance ; Brachydactyly ; Central posterior corneal[test.mousephenotype.org]
  • Individuals are short of stature and brachydactyly is often present. Developmental delays and mental retardation are usually features. Other variable anomalies have been reported.[disorders.eyes.arizona.edu]
  • Both had a short webbed neck, limitation of extension and supination of the elbows, and brachydactyly, with fifth finger clinodactyly.[findzebra.com]
Flexion Contracture
  • A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation. J Pediatr. 1966 Oct; 69 (4):624–629. [ PubMed ] [ Google Scholar ] Cross HE, McKusick VA, Breen W.[ncbi.nlm.nih.gov]
Small Head
  • They may have a small head size (microcephaly), and in severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head.[findzebra.com]
Cleft Lip and-or Palate
  • Her only son had brachydactyly with single palmar creases and syndactyly of the 2nd and 3rd toes, short stature (163.5 cm), flat philtrum with no evidence of cleft lip or palate, and iris coloboma.[findzebra.com]
Short Neck
  • neck ; Vesicoureteral reflux ; Webbed neck Associated Genes - Mouse Orthologs - Source OMIM:244600 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes)[test.mousephenotype.org]

Workup

Pseudomonas
  • 30849422 ) Figueroa-Espinosa R...Di Conza J 2019 7 Comparative analysis of KPC-2-encoding chimera plasmids with multi-replicon IncR:IncpA1763-KPC:IncN1 or IncFIIpHN7A8:IncpA1763-KPC:IncN1. ( 30774396 ) Qu D...Zhou D 2019 8 Report of a KPC-producing Pseudomonas[malacards.org]

Treatment

  • Treatment Treatment Options: No treatment beyond surgical repair of the cleft lip and palate or scoliosis is available. Peripheral iridotomies have been done in the presence of shallow anterior chambers.[disorders.eyes.arizona.edu]
  • CPE - author's reply. ( 30818003 ) Lim YJ...Choi SH 2019 12 Comparative Analysis of blaKPC Expression in Tn4401 Transposons and the Tn3-Tn4401 Chimera. ( 30833426 ) Huang J...Ji J 2019 13 In Vitro Effectiveness of Meropenem and Cefmetazole Combination Treatment[malacards.org]
  • A clinical trial may include existing medications or treatments in combination with new drugs or may involve a different approach to sequencing or dosing of medications and treatment (Dzolganovski, 2010).[link2uni.com]
  • Keratonus recent advances in diagnosis and treatment. New York : Springer, 2017, pp. 349 – 358. Google Scholar[journals.sagepub.com]
  • Ref epi on & epioff • future-of-treatment-2[slideshare.net]

Prognosis

  • Diagnosis and Prognosis: The diagnosis is based on a collaborative effort by ophthalmologists, pediatricians and orthopedists. No information on longevity is available but the combination of anomalies requires supportive care for patients.[disorders.eyes.arizona.edu]

Etiology

  • Genetics: The etiology of this condition is unknown but the rare familial cases reported suggest autosomal recessive inheritance. No gene mutation has been found.[disorders.eyes.arizona.edu]
  • The etiology and pathogenesis of the disease are unknown.[scielo.br]
  • ETIOLOGY : • Definite etiology is unknown. • 95% of patients do not show evidence of specific hereditary pattern.[slideshare.net]
  • Conclusion AS-OCT is a useful tool in cases when a child presents with a corneal opacity of unknown or unclear etiology. In our patient, AS-OCT showed the classic description of central corneal thinning seen in this condition.[bmcophthalmol.biomedcentral.com]
  • Conclusion: AS-OCT is a useful tool in cases when a child presents with a corneal opacity of unknown or unclear etiology. In our patient, AS-OCT showed the classic description of central corneal thinning seen in this condition.[docksci.com]

Prevention

  • Hence, additional precautions to prevent vitreous loss and high IOP are recommended while planning cataract extraction in cases of keratoconus posticus circumscriptus.[ijo.in]
  • . • After lifting the LASIK flap, the flap is folded over itself in order to prevent absorption of Riboflavin by the flap. • A single drop of Vibex Xtra is placed over the exposed stromal bed and carefully spread. 106. • Soaking of Riboflavin is continued[slideshare.net]

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