Purpose Oculocutaneous albinism (OCA) is a group of genetic diseases with an autosomal dominant pattern. It affects skin, hair and eyes, leading in an hypopigmentation of all these organs. In ophthalmology we can observe a low visual acuity, photophobia, nystagmus, foveal hypoplasia and retinal hypopigmentation. The hypopigmentation may also affect the iris with a characteristic iridian translucence. The disease is also associated with chiasm alterations. Methodss We present the case of a 40 year old patient that was referred to our service to confirm the diagnosis of oculocutaneous albinism. The patient presents a severe hypopigmentation of the skin and hair. She also referred a low visual acuity since birth. She didn't presented family antecedents, or personal ophthalmologic history. Results The best corrected visual acuity (BCVA) was 0.1 in both eyes. The patient presented horizontal nystagmus and iridian translucence. The fundus examination revealed an important retinal atrophy that showed the choroidal circulation.The optical coherence tomography (OCT) revealed a foveal hypoplasia, atrophy in the epithelial retinal epithelium. Conclusions In the patients that the diagnosis of oculocutaneous albinism is not clear, the use of an objective complementary test may be determinant before the genetic diagnosis. This case shows the utility of macular OCT to guide the molecular diagnosis.
Purpose To describe a case report of a 35 years old metal worker with a corneal ulcer in his right eye treated with an antibiotics ointment by a primary care doctor that presented blurry vision two days later. Methods Examination of the anterior chamber by slit lamp, tonometry was used to determine intraocular pressure, funduscopy, Swept‐Source OCT and CT scan were performed. Results The patient right eye presented intense epibulbar and tarsal hyperemia, and it had a 1x1 mm corneal ulcer, positive in the fluorescent test, and an iridium hole below. Tyndall 2+ and IOP of 18 mmHg. No cataract was detected. Funduscopy examination showed a moderate amount of vitreous hemorrhage. A CT scan, retinography and a Swept‐Source OCT were performed and they revealed an intraocular foreign body located in the optic nerve area. The foreign body was removed via pars plana vitrectomy 23G surgery, requiring a magnet a demarcating laser. After four months the patient has a 20/20 visual acuity with no cataract. Conclusions This case underlines that although CT scan is considered the “gold standard” for the detection, localization and characterization of intraocular foreign bodies, new image techniques as Swept‐Source OCT can be a non invasive and accurate search tool in cases of intraocular foreign body.
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