Septo-Optic Dysplasia: A Case Series of 33 Patients.

The objective of this study was to record the clinical, neuro-radiological, and systemic features of patients with septo-optic dysplasia (SOD). A retrospective review of patients was conducted to identify patients with features consistent with SOD over a 6-year period, including optic nerve hypoplasia with agenesis of midline structures, along with an absent septum pellucidum and/or agenesis of the corpus callosum. Thirty-three patients were identified.

Seeing beyond Gaucher disease: Early detection and treatment of ocular complications.

Background: Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which impairs the body's ability to break down certain fats. This leads to the accumulation of glucosyl sphingosine and glucosyl ceramide in the liver, spleen, and bone marrow. Gaucher disease has two major types: nonneuropathic (Type 1) and neuropathic (Type 2 and Type 3).

Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center.

Purpose: To identify and describe the clinical profile at presentation in patients diagnosed as having Leber's hereditary optic neuropathy with primary and secondary mutations and correlate with treatment.

Methods: A review of electronic medical records from January 2016 to December 2020 for proven cases of Leber's hereditary optic neuropathy was conducted. A total of 157 patients with clinically suspected Leber's hereditary optic neuropathy (143 males and 14 females) underwent genetic testing and 55 were found to have a mutation for Leber's hereditary optic neuropathy.

Unilateral persistent disc oedema due to cerebral sinus venous thrombosis (CSVT): diagnostic and management challenge.

A 50-year-old woman was incidentally diagnosed to have unilateral disc oedema during comprehensive ophthalmological evaluation. She had a prior history of ulcerative colitis. She had normal visual function and was initially diagnosed to have incipient non-arteritic anterior ischaemic optic neuropahty.