Edit concept Question Editor Create issue ticket

Corneal Opacity

Leukoma


Presentation

  • CASE PRESENTATION: We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity.[ncbi.nlm.nih.gov]
Dysmorphic Face
  • There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted.[ncbi.nlm.nih.gov]
Flexion Contracture
  • The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet.[ncbi.nlm.nih.gov]
Hirsutism
  • There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted.[ncbi.nlm.nih.gov]
Diplopia
  • Dk/t is a measurement of a contact lens's oxygen transmissibility. double vision Also called diplopia. When two images of the same object are perceived by one or both eyes.[allaboutvision.com]
Retinal Pigmentation
  • We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8.[ncbi.nlm.nih.gov]

Workup

Urea Increased
  • The blood urea increased to 8.1 mmol/L (normal 7.1 mmol/L) and creatinine increased to 158 μmol/L (normal 133 μmol/L). Then, a bone marrow biopsy was performed, showing 26% pleomorphic plasma cells (normal 15%).[ncbi.nlm.nih.gov]
Creatinine Increased
  • The blood urea increased to 8.1 mmol/L (normal 7.1 mmol/L) and creatinine increased to 158 μmol/L (normal 133 μmol/L). Then, a bone marrow biopsy was performed, showing 26% pleomorphic plasma cells (normal 15%).[ncbi.nlm.nih.gov]

Treatment

  • Ophthalmologic treatments, including active occlusion therapy, should also be pursued.[ncbi.nlm.nih.gov]

Prognosis

  • To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care.[ncbi.nlm.nih.gov]
  • […] injuries may involve: Removing foreign material from the eye Wearing an eye patch or temporary bandage contact lens Using eye drops or ointments prescribed by the doctor Not wearing contact lenses until the eye has healed Taking pain medicines Outlook (Prognosis[mountsinai.org]
  • A regraft in such cases carries a worse prognosis.[bmcmedicine.biomedcentral.com]
  • In patients with a dense unilateral opacity and a normal fellow eye, the decision to operate may be more difficult because, although the treatment is still surgical, the visual prognosis is guarded.[emedicine.medscape.com]
  • Visual prognosis is dependent on the disease severity.[eyerounds.org]

Etiology

  • Corneal opacity has been speculated as the etiology for most of reported cases. We are presenting a case of a 56-year-old man with a partial unilateral corneal opacity and edema at kilometer 150 of a 161-km mountain bike race in high altitude.[ncbi.nlm.nih.gov]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Cytomegalovirus as an etiologic factor in corneal endotheliitis. Ophthalmology . 2008;115(2):292–297.e3. doi:10.1016/j.ophtha.2007.04.053 [CrossRef] Zheng X, Yamaguchi M, Goto T, et al. Experimental corneal endotheliitis in rabbit.[healio.com]
  • Etiology and Pathophysiology Most cases of Peters anomaly are sporadic without an identified genetic cause. It can occur as an isolated finding or associated with systemic disease as in Peters-plus syndrome.[eyerounds.org]

Epidemiology

  • Howe LD, Galobardes B, Matijasevich A, Gordon D, Johnston D, et al. (2012) Measuring socio-economic position for epidemiological studies in low- and middle-income countries: a methods of measurement in epidemiology paper.[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of most of these cases is unknown. Corneal opacity has been speculated as the etiology for most of reported cases.[ncbi.nlm.nih.gov]
  • The pathophysiology behind these corneal opacities in neonates has not been described in any of the published case reports. 4–6 Corneal endotheliitis resulting from the destruction of endothelium by CMV is a probable explanation for the opacities seen[healio.com]
  • Etiology and Pathophysiology Most cases of Peters anomaly are sporadic without an identified genetic cause. It can occur as an isolated finding or associated with systemic disease as in Peters-plus syndrome.[eyerounds.org]

Prevention

  • Torsional oscillation efficiently emulsifies lens particles along with the fluidics, preventing posterior capsule rupture and endothelial cell damage. After the chandelier fiber is removed at the end of surgery, the 25-gauge incision self-seals.[ncbi.nlm.nih.gov]
  • Some of the risk factors for corneal opacity can't be predicted or prevented - like some eye injuries and some infections or chemicals getting in your eyes.[wisegeekhealth.com]
  • Prevention Things you can do to prevent corneal injuries include: Wear safety goggles at all times when using hand or power tools or chemicals, during high impact sports, or during other activities where you may get an eye injury.[mountsinai.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!