RESUMO
BACKGROUND: Kabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo nonsense variants in KMT2D, one novel. A follow-up of 10 years is reported. Pathogenicity of both de novo nonsense variants is analyzed. METHODS: Four eyes of two young patients were studied by full clinical examination, kinetic perimetry, short wavelength autofluorescence, full field (ff) ERGs, and spectral-domain optical coherence tomography (SD-OCT). One patient had adaptive optic (AO) imaging. Whole exome sequencing was performed in both patients. RESULTS: Both patients had de novo nonsense variants in KMTD2. One patient had c.14843C>G; p. (Ser4948ter) novel variant and the second c.11119C>T; p. (Arg3707ter). Both had a stable Snellen visual acuity of 0.2-0.3. The retinal multimodal imaging demonstrated abnormalities at the fovea in both eyes: hyperreflectivity to blue light and a well-delimited gap-disruption of ellipsoid and interdigitation layer on OCT. The dark area on AO imaging is presumed to be absent for, or with structural change to photoreceptors. The ff ERGs and kinetic visual fields were normal. The foveal findings remained stable over several years. CONCLUSION: Kabuki syndrome-related maculopathy is a distinct loss of photoreceptors at the fovea as shown by multimodal imaging including, for the first time, AO imaging. This report adds to the literature of only one case with maculopathy with two additional macular dystrophies in patients with Kabuki syndrome. Although underestimated, these cases further raise awareness of the potential impact of retinal manifestations of Kabuki syndrome not only among ophthalmologists but also other healthcare professionals involved in the care of patients with this multisystem disorder.
Assuntos
Anormalidades Múltiplas , Eletrorretinografia , Face , Angiofluoresceinografia , Doenças Hematológicas , Imagem Multimodal , Proteínas de Neoplasias , Fenótipo , Tomografia de Coerência Óptica , Doenças Vestibulares , Acuidade Visual , Humanos , Doenças Vestibulares/genética , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/fisiopatologia , Face/anormalidades , Doenças Hematológicas/genética , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/fisiopatologia , Tomografia de Coerência Óptica/métodos , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/diagnóstico , Seguimentos , Masculino , Feminino , Proteínas de Neoplasias/genética , Angiofluoresceinografia/métodos , Proteínas de Ligação a DNA/genética , Degeneração Macular/genética , Degeneração Macular/diagnóstico , Degeneração Macular/fisiopatologia , Pescoço , Fundo de Olho , DNA/genética , Sequenciamento do Exoma , Análise Mutacional de DNA , Macula Lutea/patologia , Fatores de Tempo , Adulto , AdolescenteRESUMO
PURPOSE: To report a case of acute comitant esotropia successfully treated with suboccipital decompression in a 9-year-old male patient with Chiari I malformation. DESIGN: Interventional case report. METHODS: A 9-year-old male with Chiari I malformation had acute onset of diplopia, headache, and comitant esotropia. RESULTS: About 9 months after suboccipital decompression, diplopia resolved and there was near orthophoria on examination 15 months after surgery. CONCLUSION: In view of our case and after a review of literature, we advocate primary suboccipital decompression to treat acute comitant esotropia in patients with Chiari I malformation. A follow-up period of at least 1 year rather than 6 months seems necessary to assess surgery effects.
