RESUMO
BACKGROUND: Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos. CASE PRESENTATION: A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye. CONCLUSION: This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
Assuntos
Anormalidades do Olho , Glaucoma de Ângulo Fechado , Edema Macular , Microftalmia , Disco Óptico , Retinose Pigmentar , Feminino , Humanos , Pessoa de Meia-Idade , Microftalmia/complicações , Microftalmia/diagnóstico , Glaucoma de Ângulo Fechado/complicações , Glaucoma de Ângulo Fechado/diagnóstico , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Proteínas de MembranaRESUMO
BACKGROUND: The surgical management of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literature. The goal of this study is to compare the effectiveness of various glaucoma surgeries on intraocular pressure (IOP) management in ARS. METHODS: Retrospective cohort study at a university hospital-based practice of patients diagnosed with ARS between 1973 and 2018. Exclusion criterion was follow-up less than 1 year. The number of eyes with glaucoma (IOP ≥ 21 mmHg with corneal edema, Haabs striae, optic nerve cupping or buphthalmos) requiring surgery was determined. The success and survival rates of goniotomy, trabeculotomy±trabeculectomy (no antifibrotics), cycloablation, trabeculectomy with anti-fibrotics, and glaucoma drainage device placement were assessed. Success was defined as IOP of 5-20 mmHg and no additional IOP-lowering surgery or visually devastating complications. Kaplan-Meier survival curves and the Wilcoxon test were used for statistical analysis. RESULTS: In 32 patients identified with ARS (median age at presentation 6.9 years, 0-58.7 years; median follow-up 5.4 years, 1.1-43.7 years), 23 (71.9%) patients were diagnosed with glaucoma at median age 6.3 years (0-57.9 years). In glaucomatous eyes (46 eyes), mean IOP at presentation was 21.8 ± 9.3 mmHg (median 20 mmHg, 4-45 mmHg) on 1.0 ± 1.6 glaucoma medications. Thirty-one eyes of 18 patients required glaucoma surgery with 2.2 ± 1.2 IOP-lowering surgeries per eye. Goniotomy (6 eyes) showed 43% success with 4.3 ± 3.9 years of IOP control. Trabeculotomy±trabeculectomy (6 eyes) had 17% success rate with 14.8 ± 12.7 years of IOP control. Trabeculectomy with anti-fibrotics (14 eyes) showed 57% success with 16.5 ± 13.5 years of IOP control. Ahmed© (FP7 or FP8) valve placement (8 eyes) had 25% success rate with 1.7 ± 1.9 years of IOP control. Baerveldt© (250 or 350) device placement (8 eyes) showed 70% success with 1.9 ± 2.3 years of IOP control. Cycloablation (4 eyes) had 33% success rate with 2.7 ± 3.5 years of IOP control. At final follow-up, mean IOP (12.6 ± 3.8 mmHg, median 11.8 mmHg, 7-19 mmHg) in glaucomatous eyes was significantly decreased (p < 0.0001), but there was no difference in number of glaucoma medications (1.6 ± 1.5, p = 0.1). CONCLUSIONS: In our series, greater than 70% of patients with ARS have secondary glaucoma that often requires multiple surgeries. Trabeculectomy with anti-fibrotics and Baerveldt glaucoma drainage devices showed the greatest success in obtaining IOP control.
Assuntos
Segmento Anterior do Olho/anormalidades , Anormalidades do Olho/complicações , Oftalmopatias Hereditárias/complicações , Glaucoma/cirurgia , Adolescente , Adulto , Segmento Anterior do Olho/fisiopatologia , Criança , Pré-Escolar , Criocirurgia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Seguimentos , Glaucoma/etiologia , Glaucoma/fisiopatologia , Implantes para Drenagem de Glaucoma , Humanos , Lactente , Recém-Nascido , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tonometria Ocular , Trabeculectomia , Acuidade VisualRESUMO
Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.
Assuntos
Anormalidades do Olho , Disco Óptico/anormalidades , Coloboma/diagnóstico , Coloboma/terapia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/terapia , Humanos , Disco Óptico/diagnóstico por imagem , Disco Óptico/embriologia , Disco Óptico/cirurgia , Nervo Óptico/anormalidadesRESUMO
BACKGROUND: Universal ocular screening of infants is not a standard procedure in children's health care system in China. This pilot study investigated prevalence of ocular abnormalities of 6 weeks-age infants using wide-field digital imaging system. METHODS: Infants aged 6 weeks around were consecutively enrolled in a public hospital between April 2015 and August 2016. All the infants who were enrolled in the study underwent vision assessment, eye position examination, external eye check, pupillary light reflex, red reflex examination, anterior and posterior ocular segments were examined using flashlight, ophthalmoscope, and wide-field digital imaging system. RESULTS: A total of 481 infants at 45.1 ± 6.1 days after birth were enrolled in the study. 198 infants had abnormal findings (41.2%). Retinal white spots and retinal white areas were the most common findings (42.9% of abnormalities and 17.7% of all infants screened). The second major finding was retinal hemorrhage (16.2% of abnormalities and 6.7% of all infants screened). Other abnormal findings include retinal pigmentation, concomitant exotropia, neonatal dacryocystitis, retinopathy of prematurity, 'albinism-like fundus', congenital nasolacrimal duct obstruction, familial exudative vitreoretinopathy, immature retina, corneal dermoid tumor, large physiologic cupping of optic disc, congenital persistent pupillary membrane, entropion trichiasis, subconjunctival hemorrhage, congenital cataract, vitreous hemorrhage, ptosis and choroidal nevus. Intervention of any form was required in 22 infants, which accounted for 11.1% of abnormalities detected and 4.6% of all infants screened. CONCLUSION: Universal ocular screening is not only necessary for preterm infants but also for full-term infants. Addition of red reflex examination with wide-field digital imaging system can enhance the sensitivity of screening for ocular fundus abnormities. Further study with a long-term follow-up is needed in the future.
Assuntos
Técnicas de Diagnóstico Oftalmológico , Anormalidades do Olho/epidemiologia , Retina/diagnóstico por imagem , Seleção Visual/métodos , China/epidemiologia , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Lactente , Masculino , Projetos Piloto , Prevalência , Retina/anormalidades , Estudos RetrospectivosRESUMO
Optic pits are congenital defects of the optic disc. Diagnosis of optic pit maculopathy is quite challenging in the absence of a clinically visible or optical coherence tomography (OCT) proven pit. One such scenario is when there is advanced glaucomatous cupping. We present a case in which OCT helped detect optic disc pit maculopathy in a 60-year-old female.
Assuntos
Anormalidades do Olho/diagnóstico , Glaucoma/diagnóstico , Disco Óptico/anormalidades , Doenças do Nervo Óptico/diagnóstico , Doenças Retinianas/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodosRESUMO
Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated.
Assuntos
Transtornos Cromossômicos/diagnóstico , Anormalidades do Olho/diagnóstico , Hormônio do Crescimento Humano/deficiência , Hipófise/anormalidades , Anormalidades Múltiplas/genética , Aneuploidia , Aberrações Cromossômicas , Transtornos Cromossômicos/tratamento farmacológico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22/genética , Anormalidades do Olho/tratamento farmacológico , Anormalidades do Olho/genética , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipotálamo/anormalidades , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , MasculinoAssuntos
Anormalidades do Olho/complicações , Glaucoma de Ângulo Aberto/complicações , Disco Óptico/anormalidades , Descolamento Retiniano/complicações , Adulto , Corpo Ciliar/cirurgia , Anormalidades do Olho/diagnóstico , Feminino , Angiofluoresceinografia , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/cirurgia , Gonioscopia , Humanos , Pressão Intraocular , Fotocoagulação a Laser , Lasers Semicondutores/uso terapêutico , Descolamento Retiniano/diagnóstico , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
A 9.5-year-old, male castrated European Short-haired (ESH) cat was presented with bilateral glaucoma associated with pectinate ligament dysplasia and an open iridocorneal angle (ICA) upon gonioscopy. The right eye (OD) was avisual and slightly enlarged; the left eye (OS) was still visual. Intraocular pressure (IOP) had been controlled with medical therapy over a 1.5 year-period in both eyes (OU). Eventually IOP could not be adequately controlled medically and the painful and blind right eye was enucleated and transscleral diode laser cyclophotocoagulation was performed twice in the left eye with less than optimal results and progressive loss of vision. Histopathology of the right eye showed goniodysgenesis characterized by failure of differentiation of the pectinate ligament, which existed as a solid sheet of uveal tissue at the entrance of a hypoplastic ciliary cleft, which contained loose mucoid mesenchymal tissue. The trabecular meshwork was hypoplastic and the scleral venous plexus could not be identified. Other findings of chronic glaucoma were inner retinal atrophy, optic nerve atrophy with disc cupping, scleral thinning, peripheral corneal vascularization and pigmentation, and mild focal iridal mononuclear inflammatory cell infiltrate.
Assuntos
Doenças do Gato/diagnóstico , Doenças do Gato/cirurgia , Anormalidades do Olho/veterinária , Glaucoma/veterinária , Animais , Cegueira/etiologia , Cegueira/veterinária , Doenças do Gato/patologia , Gatos , Diagnóstico Diferencial , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/cirurgia , Glaucoma/complicações , Glaucoma/diagnóstico , Glaucoma/cirurgia , Masculino , Procedimentos Cirúrgicos Oftalmológicos/veterinária , LinhagemRESUMO
PURPOSE: To describe a multigenerational family with autosomal dominant inheritance of cavitary optic nerve head (ONH) anomalies and abnormal ONH vasculature. DESIGN: Description of a single family with inherited eye disease. METHODS: A four-generation pedigree was investigated. Examination included visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP) measurement, and ophthalmoscopy. Visual fields and fundus photography were obtained when possible. RESULTS: Seventeen clinically affected individuals and two obligate carriers were identified. Most (64.7%) affected persons had bilateral involvement. Visual acuity in affected eyes ranged from 20/20 to no light perception. Although the appearance of affected nerves varied greatly, most lacked a well-formed central retinal artery and instead had multiple radial cilioretinal arteries. Prominent cupping was seen in most affected nerves. Four individuals for whom information was available were treated for glaucoma, but none had documented elevated IOP. Four eyes of two patients demonstrated progressive ONH cupping at normal IOPs. Nine (56.3%) of the 16 individuals for whom we had data had evidence of serous macular detachments; five of these had bilateral macular disease. CONCLUSIONS: A large family with autosomal dominant inheritance of cavitary ONH anomalies and abnormal vasculature is presented. Clinical phenotypes varied markedly. Progressive ONH cupping was documented in four eyes of two patients. Genetic linkage analysis of this family has identified the chromosomal location of a gene responsible for ONH development. This may provide insight into the pathogenesis of glaucomatous ONH damage.
Assuntos
Anormalidades do Olho/diagnóstico , Disco Óptico/anormalidades , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Progressão da Doença , Anormalidades do Olho/genética , Feminino , Angiofluoresceinografia , Genes Dominantes , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Disco Óptico/irrigação sanguínea , Linhagem , Artéria Retiniana/anormalidades , Transtornos da Visão/genética , Acuidade Visual , Campos VisuaisRESUMO
PURPOSE: To investigate the prevalence and characteristics of superior segmental optic hypoplasia in Japanese. METHODS: We studied 14 779 subjects, aged 40 years or older, who underwent IMAGEnet fundus photography as part of a large-scale eye disease screening project conducted in Tajimi, Japan. A single researcher reviewed all of the photographs for the presence of ocular abnormality in the optic nerve head and retina, paying special attention to the presence of superior segmental optic hypoplasia. RESULTS: Fundus photographs of 14 431 cases (28,396 eyes) were successfully reviewed. We found superior segmental optic hypoplasia in 37 cases (54 eyes; 0.3% of the cases and 0.2% of the eyes). Of the 37 cases, 23 (62%) showed the corresponding visual field defect in at least one eye. CONCLUSION: The prevalence of superior segmental optic hypoplasia is about 0.3% in the Japanese population.
Assuntos
Anormalidades do Olho/epidemiologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/epidemiologia , Adulto , Idoso , Estudos Epidemiológicos , Anormalidades do Olho/diagnóstico , Feminino , Fundo de Olho , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Programas Nacionais de Saúde , Doenças do Nervo Óptico/diagnóstico , Prevalência , Acuidade Visual , Testes de Campo Visual , Campos VisuaisRESUMO
Os autores relatam o caso de uma paciente que apresentou lágrimas de sangue. Após ampla investigaçäo diagnóstica nenhuma causa orgânica para o fenômeno foi encontrada. É abordado o diagnóstico diferencial desta condiçäo clínica.