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Findings from this case-control study support the hypothesis that vitamin A can slow loss of cone function in children with common forms of retinitis pigmentosa.

Swiss-based Novartis Pharmaceuticals has acquired rights to commercialize Luxturna—Spark Therapeutics’ gene therapy for inherited retinal dystrophy—outside of the United States.

Patients with ND present with blindness due to leukocoria caused by immature retinal cell masses (pseudogliomas) and retinal detachments at birth. Treatment strategies include early laser photocoagulation or vitrectomy to prevent retinal detachment.

The case of a 3-year-old boy who was first examined in 2009 to rule out a retinal dystrophy.

Dr. Marilyn Mets presents 2-year follow-up of a Hispanic child who was first seen at 15 months, demonstrating attempts to assess vision and achieve best vision in this patient with early subluxation of her lenses.

Aicardi syndrome is a rare neurodevelopmental disorder originally characterized by the triad of infantile spasms, partial or total agenesis of the corpus callosum, and typical lacuna-shaped chorioretinal lesions. In 2005, modified diagnostic criteria were proposed: If 2 classic and at least 2 other major or supporting features were present, the diagnosis would be highly suspected.

Wolfram syndrome, also referred to by the acronym DIDMOAD, is an autosomal recessive neurodegenerative disease characterized by a combination of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, neurological symptoms, renal tract abnormalities, psychiatric manifestations and gonadal disorders.

The full-blown form of the Wiiliams syndrome includes supravalvular aortic stenosis, multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia.

This presentation explains Cerebrotendinous Xanthomatosis (CTX), a rare cause of developmental cataracts.