Untreated combined persistent fetal vasculature with "coralliform" cataract in a Hispanic 21 year-old male.

Persistent fetal vasculature is a spectrum of ocular abnormalities linked to an incomplete regression of the fetal ocular vasculature. A 21-years old male patient came to the outpatient clinic reporting low vision and strabismus in his left eye since 3 years of age. Ophtalmological examination revealed a normal right eye, while the left eye had a best corrected visual acuity of hand-motion perception, a 30 prism diopters esotropia, a "coralliform" cataract and a vitreous stalk joining the posterior face of the lens and the optic nerve.

Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

Background: Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in have also been associated with isolated IRDs. Herein, a case with heterozygous variations that had not been previously linked to a -isolated retinal degeneration (IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented.