ABSTRACT
ABSTRACT We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.
RESUMO Nós descrevemos um caso de uma paciente de 15 anos com queda de acuidade visual e aumento da pressão intraocular em ambos os olhos, juntamente com fechamento angular no exame de gonioscopia. Na fundoscopia a paciente apresentava atenuação dos vasos retinianos, palidez de disco e aumento de escavação em olho esquerdo. Ao exame da biomicroscopia ultrassônica, foi evidenciado corpo ciliar anteriorizado e ausência de sulco ciliar em ambos os olhos, relevando presença de íris em plateau. Ao exame de tomografia de coerência óptica, visualizamos presença de edema macular cistoide bilateral. O screening genético revelou heterozigose no gene CRB1 (c.2843G>A and c.2506C>A), confirmando o diagnóstico de retinose pigmentar. Este caso reforça a importância do exame de gonioscopia e da avaliação da pressão intraocular em pacientes em câmara rasa, mesmo em pacientes jovens. Além disso, mostra a importância do screening genético como ferramenta útil para elucidação diagnóstica.
Subject(s)
Humans , Adolescent , Glaucoma, Angle-Closure , Retinitis Pigmentosa , Glaucoma, Angle-Closure/surgery , Glaucoma, Angle-Closure/genetics , Retinitis Pigmentosa/complications , Retinitis Pigmentosa/genetics , Eye Proteins/genetics , Membrane Proteins , Nerve Tissue ProteinsABSTRACT
We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.
Subject(s)
Glaucoma, Angle-Closure , Retinitis Pigmentosa , Humans , Adolescent , Glaucoma, Angle-Closure/genetics , Glaucoma, Angle-Closure/surgery , Retinitis Pigmentosa/complications , Retinitis Pigmentosa/genetics , Eye Proteins/genetics , Membrane Proteins , Nerve Tissue ProteinsABSTRACT
BACKGROUND: To describe a patient with branch retinal artery occlusion that was misdiagnosed as normal tension glaucoma (NTG). CASE PRESENTATION: A female 76-year-old patient presenting inferior nasal visual field scotoma, neuroretinal thinning in the optic disk of the right eye with corresponding atrophy of superior retinal nerve fiber layer in optical coherence tomography (OCT). She was treated with latanoprost eye drops for NTG. However macular OCT angiography showed a localized thinning of the inner retina following the superior temporal branch retinal artery path, along with a superficial and medium capillary plexus reduction and superior macular ganglion cell layer atrophy. Further investigation with carotid arteries angio-tomography revealed an atheromatous lesion in the right and left carotid bulb with stenosis of 50-60%, in addition to aneurysms of the cavernous, pituitary and communicating segments of the left and right internal carotid artery, reinforcing the diagnosis of superior temporal branch retinal artery ischemic. CONCLUSION: This case highlights the importance of establishing differential diagnosis in cases of presumed NTG and reinforces the use of the OCT angiography in clinical practice.
