ABSTRACT Choroideremia is a rare X-linked chorioretinal dystrophy that may closely resemble retinitis pigmentosa (RP) in its early stages. We describe two brothers who were initially diagnosed with RP and later found to have choroideremia after multimodal imaging and genetic testing. The proband, a 49-year-old man, presented with progressive visual loss, diffuse chorioretinal atrophy, and bone spicule pigmentation. His 51-year-old brother had advanced disease with no light perception. Both displayed fundus autofluorescence and OCT findings typical of choroideremia. A hemizygous […]

ABSTRACT The objective of this study was to report a case of retinitis pigmentosa in a patient with HIV and ocular syphilis, highlighting the complexity of diagnosis and treatment in overlapping systemic and ocular conditions. A descriptive, qualitative analysis of the patient’s clinical evolution was conducted using medical records and patient interviews. A literature review was performed through PubMed® and SciELO. Data collection followed ethical standards, with informed consent obtained. Treatment with antiretroviral therapy and specific antibiotics for syphilis led […]

ABSTRACT Retinitis pigmentosa is one of the leading causes of hereditary blindness in developed countries and unfortunately there is currently no cure. Photobiomodulation therapy can penetrate the retina and optic nerve and restore the function of damaged mitochondria as an intracellular target. This study is proposed to review and analyze photobiomodulation as a strategy that has the potential to be a new hope therapy and non-invasive treatment for retinitis pigmentosa in the long term. PubMed® and Google Scholar were used […]

ABSTRACT Syphilis is a sexually transmitted infection caused by the spirochete Treponema pallidum. Ocular involvement can occur at any time, and it may affect 10% of patients in the secondary stage, and from 2% to 5% in the tertiary stage. Uveitis is the most common presentation of ocular syphilis, affecting 0.4% to 8% of patients with systemic disease. Chorioretinitis is the most common posterior alteration. We present the case of a 53-year-old male patient, presenting with bilateral low visual acuity […]

OBJECTIVE: To make an epidemiological analysis of patients with retinitis pigmentosa (RP), characterizing clinical aspects of the disease and the pattern of inheritance found in the population studied, according to the presence or not of Usher Syndrome. METHODS: 155 patients with RP were studied and the sample was divided into two groups: group 1 (n = 130) with patients diagnosed with classical RP not associated with systemic symptoms; and group 2 (n = 25) with patients diagnosed with Usher syndrome […]