ABSTRACT
Blue cone monochromatism (BCM) is a rare X-linked congenital vision disorder that is characterized by a cone dysfunction. We present a case of a 3-year-old boy referred to our department with abnormal eye movements since birth, impaired vision, and difficulties in distinguishing colors. A tendency to stare at the sun was noted. Examination revealed severe loss of visual acuity, high myopia, and opsoclonus. A mutation screening of OPN1LW / OPN1MW gene cluster was performed showing a nucleotide substitution encoding a Cys203Arg (C203R) missense mutation. The diagnosis of BCM in this case was clear and the patient harbored the most frequent genetic alteration. Opsoclonus and continued voluntary light exposure are novel features that have not been previously reported in BCM.
ABSTRACT
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Subject(s)
Humans , Child , Multiple Sclerosis , Child Health , Optic Neuritis , Tomography, Optical CoherenceABSTRACT
PURPOSE: To evaluate the effectiveness of inferior oblique recession with contralateral partial temporal inferior rectus recession in patients with decompensated congenital unilateral superior oblique palsy (SOP) in correcting moderate vertical deviations in primary position. METHODS: The medical records of patients with SOP who underwent inferior oblique recession with contralateral partial temporal inferior rectus recession were reviewed retrospectively. Vertical deviation in primary position, subjective torsion, diplopia, residual deviation, and the deviation decrease were evaluated. RESULTS: Four patients (three males and one female, age range 29-56 years) with congenital unilateral SOP and mean vertical deviation of 21.0 ± 5.3PD (range 14-25D) in primary position were included. Mean correction of hypertropia in primary position with this technique was 15.5 ± 5.3PD (range 10-20PD). The mean hypertropia on gaze to the contralateral side changed from 30.0 ± 10.8D before surgery to 9.3 ± 7.9D after surgery. Torsion had a mean change of 4.8° of incyclodeviation. Preoperatively, all patients had head tilt and diplopia, which was resolved in all but one patient, who will need surgery. Patients were followed an average of 18 months. No adverse events were reported in any subjects. CONCLUSION: When performing recession of inferior oblique muscles in SOP associated to a full recession of the contralateral inferior rectus, there is a risk of overcorrection in those with moderate angles. Performing a partial recession in the contralateral inferior rectus eye corrected up to 20PD in primary position in our series, reducing this risk.
Subject(s)
Strabismus , Trochlear Nerve Diseases , Adult , Female , Humans , Male , Middle Aged , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Paralysis , Retrospective Studies , Strabismus/surgery , Treatment Outcome , Trochlear Nerve Diseases/surgeryABSTRACT
PURPOSE: To describe optical coherence tomography angiography (OCTA) findings in the retina and choroid of patients with neurofibromatosis type 1 (NF1). METHODS: We describe a series of four patients diagnosed with NF1 and choroidal nodules who underwent a comprehensive ophthalmic evaluation including a retinal multimodal imaging study based on retinography, near-infrared reflectance imaging (NIR), enhanced depth imaging (EDI) optical coherence tomography (OCT) and OCTA. RESULTS: Patients were three women and one man aged 36-47 years. In all patients, the choroidal nodules were not visible in retinographies but easily detectable with NIR, appearing as multiple bright patches. On OCTA, we observed reduced vessel density in the choriocapillaris in zones where choroidal nodules appeared in OCT images. In one patient, a corkscrew vessel was visible in the superficial capillary plexus. CONCLUSION: Choriocapillaris vessel density was reduced in zones where choroidal nodules occur in NF1 patients. Further work is needed to clarify the clinical relevance of this finding.
Subject(s)
Choroid Diseases , Neurofibromatosis 1 , Choroid/blood supply , Choroid Diseases/diagnosis , Female , Fluorescein Angiography/methods , Humans , Male , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Tomography, Optical Coherence/methodsABSTRACT
Although rare, retinal artery cholesterol emboli (Hollenhorst plaques) post angioplasty can be a severe event that can cause irreversible visual disturbances, usually taking place during or following the procedure. However, as the number of procedures continues to increase, interventional radiologists or cardiologists who perform coronary catheterization should be cognizant of its possible delayed occurrence, as in the case presented herein.
