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Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations

Arif O Khan1, Omar S Basamh2

  • 1a Eye Institute, Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

Ophthalmic Genetics
|April 20, 2018
PubMed

Insights

Biallelic mutations in the Solute Carrier Family 4 Member 4 (SLC4A4) gene can cause various health issues in children. A specific SLC4A4 mutation presents solely with ocular problems, as seen in this case series.

Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Biallelic mutations in the Solute Carrier Family 4 Member 4 (SLC4A4) gene are associated with a spectrum of pediatric conditions.
  • These conditions include proximal renal tubular acidosis, developmental delay, band keratopathy, and glaucoma.

Observation:

  • This study focuses on children referred to pediatric ophthalmology evaluations.
  • The researchers investigated cases where children were found to have underlying biallelic SLC4A4 mutations.

Findings:

  • A unique SLC4A4 mutation was identified, leading to an ocular-only phenotype.
  • This highlights the diverse clinical presentations associated with SLC4A4 gene mutations.

Implications:

  • Understanding the genotype-phenotype correlation of SLC4A4 mutations is crucial for accurate diagnosis.
  • Early identification of SLC4A4-related ocular conditions can guide timely management and improve patient outcomes.

Keywords:
Band keratopathySLC4A4pediatric glaucoma

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