Patrick Hamel

Real-time Ophthalmoscopic Findings of Intraophthalmic Artery Chemotherapy in Retinoblastoma

Author Affiliations: Vitreoretinal Service, Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics (Drs Davis, Folk, Russell, Sohn, Boldt, Stone, and Mahajan), Howard Hughes Medical Institute (Dr Stone), and Omics Laboratory (Dr Mahajan), University of Iowa, Iowa City. Correspondence: Dr Mahajan, Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242 (mahajanlab@gmail.com). Financial Disclosure: None reported.

Mucolipidosis type IV in a child

Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder with psychomotor developmental delay, visual impairment, and achlorhydria. A mutation in the MCOLN1 gene causes an alteration of the protein mucolipin-1 that results in the accumulation of lipids and proteins in cytoplasmic vacuoles derived from lysosomes. Visual impairment results mainly from corneal clouding and retinal degeneration. The involvement of the corneal epithelium has been proposed following clinical observation and confirmed by ultrastructural studies of the cornea. We present the case of a child of French Canadian origin affected by mucolipidosis type IV who showed abnormal optical coherence tomography imaging of the cornea, typical skin cell inclusions on electronic microscopy, and a novel pathogenic mutation.

Two Cases of Retinoblastoma Invading the Optic Nerve Sheath

The authors report two cases of retinoblastoma with extension along the optic nerve sheath with negative surgical margins, a pattern not considered in current classifications but suggesting a high risk of metastasis. Both patients were treated with adjuvant chemotherapy alone and remain free of extraocular disease 15 and 22 months later. [J Pediatr Ophthalmol Strabismus. 2016;53:e51-e53.].