ABSTRACT Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the “cherry red spot”. The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis […]

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

ABSTRACT Cavernous sinus and superior ophthalmic vein thrombosis is a rare clinical condition, and little described in the literature. The clinical presentation is nonspecific and highly variable, and symptoms may include red eye, ophthalmoplegia, coma, and death. The main etiology results from infection of the paranasal sinuses. The final diagnosis must be made through imaging tests such as magnetic resonance imaging. We describe a case of cavernous sinus and superior ophthalmic vein thrombosis after COVID-19 infection in a 64-year-old patient […]

ABSTRACT By reshaping the cornea using an individualized ablation profile for each eye obtained through wavefront aberrometry, wavefront guided treatment attempts to reduce preexisting and surgically induced aberrations while minimizing visually significant higher-order aberrations (HOAs). However, HOA enhancement is still a concern, even with custom ablations. In the myopic laser refractive surgery, as the laser beam enters the periphery, some parts are reflected, and the circular beam becomes elliptical, resulting in a decrease in the effectiveness of the laser energy. […]

ABSTRACT Congenital dacryocystocele is an uncommon entity that results from a malformation of the nasolacrimal system, occurring predominantly in neonatal females. It may resolve spontaneously but can be associated with potentially serious complications as acute dacryocystitis, requiring referral to an ophthalmologist. Bilateral cases of congenital dacryocystocele are rarely reported. We present a case of acute dacryocystitis occurring in a female newborn with bilateral congenital dacryocystocele who presented with bilateral epiphora and a mass in the right medial canthus since birth. […]

ABSTRACT Juvenile glaucoma and retinoschisis are rare diseases alone. They occur bilaterally with early onset, resulting in severe visual loss. Juvenile glaucoma is mainly described in males, with high intraocular pressure, and juvenile retinoschisis is characterized by the formation of retinal cysts. This case reports a 16-year-old male patient with progressive visual loss that presents an association of both pathologies, which is an uncommon and severe involvement. After adequate diagnosis and drug treatment, the condition improved and did not require […]

ABSTRACT Chlorpromazine is a medication widely used in psychiatry for the treatment of psychoses, especially schizophrenia. Since 1964, published articles have been correlating this medication with the appearance of ocular alterations. In this paper, we report the case of a 65-year-old patient with ocular effects due to long-term therapy with chlorpromazine. Biomicroscopy of both eyes presented diffuse granular brown deposits, most prominent at the deep stroma and corneal endothelium level. Also showed anterior subcapsular brown deposits with a stellate pattern […]

ABSTRACT Hyperplastic primary vitreous persistence, currently referred to as fetal vasculature persistence, is a congenital anomaly that results from non-regression of the primary vascular vitreous and hyaloid artery system during embryogenesis. It is a unilateral anomaly in the vast majority of cases, sporadic and commonly not associated with any other systemic finding. Clinically, this condition can be classified into anterior and posterior persistence of fetal vasculature. The anterior condition is related to the ciliary artery system, while the persistence of […]