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. BPES is an autosomal dominant condition characterized by narrowed horizontal palpebral fissures, severe bilateral symmetric ptosis, epicanthus inversus, and telecanthus. To the authors' knowledge, this represents the second reported case of congenital alacrima in this syndrome. The first case described in the literature was in a 9-month-old girl who had congenital absence of the lacrimal glands. BPES may present with alacrima requiring vigilant lifelong lubrication and careful consideration in decisions for eyelid surgery including ptosis repair.

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. This is the first detailed report of the ocular findings associated with cblA. We also describe the spectrum of ocular findings in our cblC patients. MATERIALS AND METHODS: A case series describing the ophthalmologic clinical course of six patients with a diagnosis of cobalamin C type and one patient with cobalamin A type of methylmalonic acidemia. Patients were diagnosed through biochemical laboratory testing and genetic analysis was conducted on most patients. Longitudinal fundus findings, optical coherence tomography (OCT), autofluorescence, and electrophysiology were followed in the patients. RESULTS: The cblA patient demonstrated a relatively mild ocular phenotype with late-onset and slowly progressing temporal disc pallor and peripapillary atrophy in the second decade of life. The patient maintained good visual acuity and central vision, without evidence of maculopathy. The six cblC patients demonstrated a range of ocular findings from unremarkable and mild phenotypes to significant retinopathy, including bull's eye maculopathy, severe maculopathy with punched out chorioretinal atrophy, peripheral bone spicules, and optic nerve atrophy. CONCLUSIONS: The spectrum of ocular manifestations seen with inherited disorders of cobalamin metabolism is wide, ranging from mild optic nerve atrophy to severe macular or retinal degeneration. This heterogeneity may in part reflect the associated biochemical phenotype, such as that observed between our cblA and cblC patients. We also observed heterogeneity within the cblC type in agreement with previous reports.

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. The patient also had a superior visual field defect. CONCLUSION: True optic nerve duplication is a rare entity that can be mimicked by other etiologies, including choroidal colobomas and postinflammatory lesions, requiring careful examination by clinicians.