June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Genotype-Phenotype Relationships in Patients with Anterior Segment Developmental Anomalies at Yale Eye Center: 1987-2016
Author Affiliations & Notes
  • Shagun Bhatia
    Department of Ophthalmology, Yale University, New Haven, Connecticut, United States
  • Ji Liu
    Department of Ophthalmology, Yale University, New Haven, Connecticut, United States
  • James McGrath
    Department of Genetics, Yale University, New Haven, Connecticut, United States
  • Hui Zhang
    Department of Genetics, Yale University, New Haven, Connecticut, United States
  • Jennifer Galvin
    Department of Ophthalmology, Yale University, New Haven, Connecticut, United States
  • Footnotes
    Commercial Relationships   Shagun Bhatia, None; Ji Liu, None; James McGrath, None; Hui Zhang, None; Jennifer Galvin, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2426. doi:
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      Shagun Bhatia, Ji Liu, James McGrath, Hui Zhang, Jennifer Galvin; Genotype-Phenotype Relationships in Patients with Anterior Segment Developmental Anomalies at Yale Eye Center: 1987-2016. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2426.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Anterior segment developmental anomalies (ASDA) include a spectrum of rare diseases that affect young children. ASDA have a strong genetic basis and multiple mutations have been identified. Our study examines a cohort of patients with ASDA at one academic center over nearly three decades.

Methods : A cohort of patients diagnosed with ASDA spectrum at our institution from 1987 to 2016 were identified. IRB approval was attained. Charts were evaluated for longitudinal clinical course and genetic findings.

Results : Sixteen patients with ASDA spectrum were identified with a mean follow-up of 9.9 years. Eight (50%) were female. All patients developed amblyopia. Seven (43.75%) had genetic evaluation. Disease-causing gene mutations in PAX6 were identified in 4 patients with aniridia, PITX2 and FOXC1 in 2 patients with Axenfeld Rieger syndrome, and CYP1B1 in 1 patient with atypical Peters’ anomaly. Twelve (75%) with ASDA developed glaucoma, 9 needing surgery for glaucoma and 1 needing a pupilloplasty. Two (12.5%) developed esotropia requiring strabismus surgery.

Conclusions : The majority of patients developed glaucoma requiring surgery. Less than half had genetic testing, of which all were born after the year 2000. For these younger patients, genotype-phenotype associations were strongest for patients with aniridia and PAX6 mutations. Our cohort showed a high risk of developing glaucoma, which was controlled after surgery. The severity of glaucoma was related to the severity of amblyopia. Over the next decade, our younger patients with mutations should be followed closely for intraocular pressure control, amblyopia prevention, and need for additional surgery to describe further genotype-phenotype associations.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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