Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy.

A 16-year-old boy with early-childhood-onset retinal dystrophy and developmental delay was diagnosed with abetalipoproteinemia based on ophthalmic examination, history, and results of a peripheral blood smear. The diagnosis was confirmed by lipid profile and genetic testing, and an older sister was confirmed to be affected as well. Although abetalipoproteinemia is treatable in early childhood, most cases are diagnosed late if at all. We highlight clinical features that should raise suspicion for this treatable but likely under-diagnosed form of early-onset retinal dystrophy and document retinal optical coherence tomography findings for a genetically proven case.

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

Biallelic mutations in the gene SLC4A4 (Solute Carrier Family 4 Member 4) cause protean manifestations in children that include proximal retinal tubular acidosis, developmental delay, band keratopathy, and glaucoma. A unique SLC4A4 mutation causes an ocular-only phenotype. In this retrospective case series, we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor underlying biallelic SLC4A4 mutations.