The Canabrava Ring, an open ring-shaped pupil expander for cataract surgery associated with iris colobomata: a case report / Aplicação de anel expansor de pupila pequena em formato de anel aberto para cirurgia de catarata em coloboma de íris: relato de caso

ABSTRACT In this report, we describe a new pupil expander device that was used to obtain adequate pupil dilation and centering in a patient with an iris coloboma. Specifically, we describe the case of a patient with an iris coloboma; a Malyugin ring was inserted to facilitate dilation during phacoemulsifi­cation surgery. One of the scrolls did not engage which resulted in an uneven distribution of forces and an eccentric pupil. A Canabrava Ring was then implanted that promoted effective pupillary dilation and remained stable and effective throughout the surgical procedure.

RESUMO Neste relato, descrevemos um novo dispositivo expansor pupilar que foi usado obter adequada dilatação e centralização da pupila em um paciente com coloboma de íris. Especificamente, descrevemos um caso de cirurgia de facoemulsificação em um paciente com coloboma de íris associado à pupila pequena e que, previamente, tentou-se sem sucesso o uso do expansor Malyugin Ring, que provocou uma dilatação pupilar descentrada. Entretanto, com o uso do expansor de íris Canabrava Ring, a pupila permaneceu dilatada e centrada durante toda a cirurgia, permitindo a realização de um procedimento seguro.

Bilateral isolated lens coloboma associated with bicuspid aortic valve / Coloboma de cristalino bilateral isolado associado à valva aórtica bicúspide

ABSTRACT A 27-year-old woman presented with a history of long-standing poor vision in both eyes. Ophthalmologic examination after pupillary dilatation revealed bilateral lens coloboma situated in the inferotemporal quadrant. No associated ocular abnormalities were seen, except amblyopia. A bicuspid aortic valve was observed during echocardiography during systemic evaluation. Lens coloboma usually occurs unilaterally; however, bilateral lens coloboma which is isolated or associated with other ocular malformations is also encountered. This is the first description of bilateral isolated lenticular coloboma associated with bicuspid aortic valve. Although the association between bicuspid aortic valve and lens coloboma may be an incidental finding, they may be components of an unknown syndrome.

RESUMO Uma mulher de 27 anos apresentou-se com uma história de longa data de deficiência visual em ambos os olhos. O exame oftalmológico após dilatação pupilar revelou coloboma de cristalino bilateral localizado no quadrante temporal inferior. Nenhuma outra alteração ocular associadas foi observada, exceto ambliopia. A valva aórtica bicúspide foi diagnosticada no exame de ecocardiograma durante a avaliação sistêmica. Coloboma cristaliniano ocorre geralmente de forma unilateral, no entanto já foi descrito bilateralmente, associado a outras malformações oculares ou isolado. Esta é a primeira descrição de coloboma cristaliniano isolado bilateral associado à valva aórtica bicúspide. Embora a associação de valva aórtica bicúspide e coloboma cristaliniano no nosso caso pode ter sido um achado incidental, eles podem ser componentes de uma síndrome desconhecida.

The Development of Recurrent Choroidal Neovascularization in a Patient with Choroidal Coloboma

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.

Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities / Melanoma de coróide em um paciente com coloboma congênito coriorretiniano bilateral: relato de caso de uma extremamente rara associação de comorbidades oculares

Clinicopathologic findings of a 44-year-old Caucasian male who presented with a congenital bilateral chorioretinal coloboma and later developed a large choroidal melanoma in his best seeing eye. The eye containing the malignant tumor was enucleated and the histopathologic findings confirmed the clinical diagnosis of choroidal melanoma, and in this case, an epithelioid cell type.

Achados clinicopatológicos de um paciente de 44 anos, branco, do sexo masculino, que apresentava coloboma bilateral congênito de retina e coróide e que, posteriormente, desenvolveu um grande melanoma da coróide no seu olho de melhor visão. O olho contendo o tumor maligno foi enucleado e os achados histopatológicos confirmaram o diagnóstico clínico de melanoma de coróide, neste caso do tipo celular epitelióide.

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.

The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.

A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 microm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.

A Case of Retinal Detachment in Colobomatous Macrophthalmos With Microcornea Syndrome

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.

Single lens to lens duplication: the missing link.

Congenital anomalies of the lens include a wide range from lens coloboma to primary aphakia and doubling of lens. There have been few case reports of double lens; the etiology suggested is metaplastic changes in the surface ectoderm that leads to formation of two lens vesicles and hence resulting in double lens. We report a case with bilobed lens, which raises the possibility of explaining the etiology of double lens.

Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma.

CONTEXT: Vitreous surgery has been advocated as an alternative treatment of selected retinal detachments with choroidal colobomas. AIM: To study the long term anatomical and visual outcome of choroidal coloboma with retinal detachment managed by pars plana vitrectomy with silicone oil tamponade. SETTING AND DESIGN: Retrospective study conducted in a tertiary eye care hospital. MATERIALS AND METHODS: Fourty two eyes of 40 patients with retinal detachments related to coloboma of the choroid without any peripheral breaks were analyzed. All eyes underwent pars plana vitrectomy with internal tamponade using silicone oil. Endolaser was performed along the coloboma border. Silicone oil was removed in 50% of patients. The main outcome measures were retinal reattachment and visual recovery. SPSS (Statistical Package for the Social Science), version 10.0 was used for analysis. RESULTS: The retina in all cases (100%) undergoing vitrectomy were completely reattached intra-operatively. After a mean follow-up of 14 months, 37 (88.1%) eyes had attached retina. The best corrected visual acuity was 10/200 or better in 33 (78.4%) eyes. The best corrected visual acuity improved from a preoperative median of counting fingers (range 20/40 to perception of light) to median best corrected visual acuity of 20/200 (range 20/40 to perception of light) at the end of 6 months. Of the 50% (21) cases that underwent silicone oil removal, two eyes had re-detachment of retina. CONCLUSION: Pars plana vitrectomy along with silicone oil tamponade for retinal detachment related to choroidal coloboma improves the long-term anatomical and visual outcome.

A Modified Iris Repair Technique and Capsular Tension Ring Insertion in a Patient with Coloboma with Cataracts

PURPOSE: We describe our successful experience using a capsular tension ring (CTR) and iris repair during cataract surgery in a patient with bilateral coloboma. METHODS: A 67-year-old woman had no history of trauma, but had zonular deficiency and inferonasal iris defects in both eyes. An extracapsular cataract extraction and intraocular lens (IOL) scleral fixation was performed in the left eye. A CTR was implanted in the right eye through a sclerocorneal incision. After the IOL was placed centrally in the capsular bag, two paracenteses were made at the limbus (5 o'clock and 7 o'clock). A long, straight needle was passed through the 7 o'clock paracentesis site into a angled, blunt tipped 27 gauge needle inserted from the 5 o'clock paracentesis. The two needles were pulled out at 5 o'clock. After inserting the long needle into the blunt tipped needle at 7 o'clock, both were passed back through the 7 o'clock paracentesis site. The needles were pulled out again at the 5 o'clock paracentesis site tied. Equal tension was used to tie both sides. RESULTS: Visual acuity improved to 20/20 in the right eye. CONCLUSIONS: Both capsular tension ring implantation and iris repair was successfully performed at the time of cataract surgery in a coloboma patient, which resulted in improvements in visual function and cosmesis.

Anomalias congênitas do disco óptico associadas à doença de Moyamoya: relato de caso / Congenital anomalies of the optic disc associated with Moyamoya disease: case report

As anomalias congênitas do disco óptico podem estar associadas a anormalidades vasculares intracranianas. Relatamos o caso de um paciente de 9 anos com anomalia do disco óptico tipo morning glory em um olho e coloboma do disco óptico e coróide infrapapilar no outro. O paciente apresentava história pregressa de ataque isquêmico transitório e angioressonância cerebral consistente com doença de moyamoya. O presente relato ilustra a importante associação das anomalias congênitas do disco óptico com a doença de moyamoya. O exame fundoscópico de pacientes suspeitos pode trazer subsídios ao diagnóstico clínico, abrindo a possibilidade do reconhecimento precoce das anormalidades vasculares intracranianas encontradas no moyamoya, aumentando a perspectiva de eventual intervenção profilática frente às potenciais complicações.

Optic nerve entrance coloboma associated with situs inversus.

A rare case of optic nerve entrance coloboma associated with situs inversus is reported.

Selection of surgical technique for retinal detachment with coloboma of the choroid.

Four eyes with rhegmatogenous retinal detachment and coloboma of the choroid were managed by conventional scleral buckling (one eye); scleral buckling combined with lensectomy, vitrectomy, and fluid-air exchange (two eyes); and vitrectomy, silicone oil injection without scleral buckling (one eye). Retinal break was seen within the coloboma in two eyes, at the periphery in one eye, and, both in the coloboma and periphery in one eye. At a follow-up of 15 months, the retina was found attached in all the patients. The success of these surgical procedures could be attributed to careful preoperative/intraoperative fundus examination and individualised surgical planning.