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Puncture-Induced Iris Neovascularization as a Mouse Model of Rubeosis Iridis
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Ocular and Systemic Abnormalities in Punctal Agenesis.

Rayna F Marshall1,2,3, Daphna Landau-Prat2,3,4,5,6, Alanna Strong7

  • 1Drexel University College of Medicine.

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|December 26, 2024
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Summary
This summary is machine-generated.

Punctal agenesis (PA) often presents with other ocular or systemic issues. Genetic testing is recommended for patients with PA and additional ocular abnormalities to identify associated syndromes.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Punctal agenesis (PA) is a rare congenital anomaly.
  • PA can occur in isolation or as part of a syndrome.
  • Clinical features prompting genetic assessment for PA are not well-defined.

Purpose of the Study:

  • Identify ocular and extraocular features associated with PA.
  • Determine the association between PA and underlying syndromes.
  • Evaluate the utility of genetic assessment in PA patients.

Main Methods:

  • Retrospective review of medical records.
  • Inclusion of patients diagnosed with PA at Children's Hospital of Philadelphia (2009-2023).
  • Analysis of ocular and extraocular medical histories.

Main Results:

  • 44 patients (3.3 ± 3.3 years) included; 70% male.
  • 24 patients (54.5%) had associated ocular/extraocular abnormalities.
  • 19 patients (43%) had systemic disorders; 17 (39%) had genetic diagnoses, most commonly ectodermal dysplasia.
  • Systemic disorders were more common in syndromic PA (63%) vs. isolated PA (20%).

Conclusions:

  • Additional ocular abnormalities correlate with higher rates of systemic disorders (63%).
  • Systemic evaluation and genetic workup are advised for PA patients with additional ocular findings.
  • Early identification of syndromes associated with PA can guide management.