ABSTRACT
ABSTRACT We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.
RESUMO Relatamos dois casos de doença de Coats em estágio 3A unilateral em pacientes pediátricos. Em ambos os casos, o controle da doença foi obtido com implante intravítreo de dexametasona, além de outros tratamentos, com melhora da acuidade visual em um caso e sem piora da visão no outro, durante um período de acompanhamento de 7 e 3 anos. Um dos casos apresentou elevação da pressão intraocular controlada com medicação antiglaucoma tópica e desenvolveu catarata que exigiu cirurgia. Em conclusão, o implante intravítreo de dexametasona pode ser um tratamento adjuvante útil a ser considerado em alguns casos pediátricos com doença de Coats.
ABSTRACT
We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.
ABSTRACT
La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.
Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.
Subject(s)
Humans , Female , Infant, Newborn , Pediatrics , Incontinentia Pigmenti , Eye Manifestations , Laser Therapy , Vascular System InjuriesABSTRACT
Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.
La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.
Subject(s)
Incontinentia Pigmenti/complications , Laser Therapy/methods , Retinal Diseases/therapy , Diagnosis, Differential , Female , Humans , Incontinentia Pigmenti/diagnosis , Infant, Newborn , Retinal Diseases/diagnosis , Retinal Diseases/etiology , Treatment OutcomeSubject(s)
Choroidal Neovascularization/etiology , Eye Diseases, Hereditary/complications , Retinal Degeneration/complications , Retinal Diseases/etiology , Retinal Vessels/pathology , Vision Disorders/complications , Adolescent , Choroidal Neovascularization/diagnosis , Electroretinography , Eye Diseases, Hereditary/diagnosis , Eye Diseases, Hereditary/genetics , Female , Humans , Mutation , Optical Imaging , Orphan Nuclear Receptors/genetics , Retinal Degeneration/diagnosis , Retinal Degeneration/genetics , Retinal Diseases/diagnosis , Retinoschisis/diagnosis , Tomography, Optical Coherence , Vision Disorders/diagnosis , Vision Disorders/geneticsABSTRACT
The most frequent ophthalmic lesions associated to neurofibromatosis type 1 include iris Lisch nodules, optic nerve gliomas, and neurofibromas located on the eyelid, conjunctiva or orbit. Glaucoma is much less frequent, and it may be difficult to diagnose and treat. We present two patients with neurofibromatosis type 1 and associated congenital glaucoma. In case 1, the glaucoma was present at birth, and was the first symptom of the disease. It was surgically treated by means of an Ahmed glaucoma valve implantation, with good intraocular pressure (IOP) control after 13 months of follow-up. In case 2, the glaucoma appeared at 5 months old, and a trabeculectomy was initially performed; it failed 2 years later and an Ahmed glaucoma valve was then implanted, with adequate IOP control after 7 years of follow-up. Both children were males, and in both cases there were orbital neurofibromas and a dysplasia of the greater wing of the sphenoid of the same side. In case 2, orbital enlargement surgery was also performed at 4 years old. Congenital glaucoma management in the context of neurofibromatosis is very complex due to the frequent association of orbital and eyelid tumors and bone dysplasia, and its prognosis is usually poor. We present two cases in which good control of IOP has been achieved with Ahmed glaucoma valve implantation after 13 months and 7 years of follow-up.
