Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.

Background: Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism. Reported ocular findings associated with cblC have been maculopathy, pigmentary retinopathy, and optic nerve atrophy. Cobalamin A disease (cblA) which causes an isolated methylmalonic acidemia without homocystinuria is rarer than cblC.

Blepharophimosis syndrome with absent tear production.

The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite clinically present palpebral lobes of the lacrimal glands.

Pseudoduplication of the optic disk.

Purpose: The purpose of this study was to report a case of a chorioretinal coloboma mimicking a second optic disk in an asymptomatic 12-year-old boy.

Methods: This is a case report.

Results: An asymptomatic 12-year-old boy presented with a chorioretinal coloboma of the right eye giving the impression of a second optic disk.