Purpose: To present the multimodal imaging and functional exam findings in a case of combined Stargardt disease and idiopathic intracranial hypertension.
Methods: The patient was evaluated with multimodal imaging including color fundus photography, short wavelength autofluorescence, spectral domain optical coherence tomography as well as functional testing such as Humphrey visual fields and full-field electroretinogram.
Results: A 35-year-old woman was referred for evaluation of bilateral transient visual obscurations over the course of 2 months.
Background: Osteopathia striata combined with cranial sclerosis (OS-CS) is an inherited skeletal dysplasia that manifests with macrocephaly, orofacial abnormalities, thickened craniofacial bones, and vertically oriented radiodensities of the long bones.
Case Report: Here, we present a severe case of OS-CS in a 4-year-old girl causing optic neuropathy as shown by radiographic evidence, ophthalmic findings, and histopathology. Previous genetic testing in this patient revealed a heterozygous mutation in (c.
Purpose: Presentation of a case of Leber hereditary optic neuropathy (LHON) with arterial sheathing eleven years after initial loss of vision.
Observations: A 46-year-old female was referred for re-evaluation of Leber hereditary optic neuropathy. She first noticed rapid painless loss of vision eleven years prior.