Causes of congenital corneal opacities and their management in a tertiary care center / Causas de opacidades corneanas congênitas e seu controle em um centro de cuidados terciários

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Causes of congenital corneal opacities and their management in a tertiary care center.

PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. METHODS: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. RESULTS: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. CONCLUSION: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos / Síndrome de Urrets-Zavalia após cirurgia de catarata em um caso de megaloftalmo anterior

ABSTRACT Intraoperative and postoperative cataract surgery in eyes with anterior megalophthalmos are challenging procedures. Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral Urrets-Zavalia Syndrome following cataract surgery.

RESUMO O intraoperatório e o pós-operatório de cirurgia de catarata em olhos com megaloftalmo anterior é desafiador. Descrevemos o caso de um homem de 53 anos com megaloftalmo anterior que desenvolveu a Síndrome de Urrets-Zavalia unilateral após cirurgia de catarata.

Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos.

Intraoperative and postoperative cataract surgery in eyes with anterior megalophthalmos are challenging procedures. Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral Urrets-Zavalia Syndrome following cataract surgery.

Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye.

BACKGROUND Foveal hypoplasia (FH) is a congenital disorder, generally associated with other conditions. CASE REPORT A 9-year-old boy presented with moderately decreased vision in the left eye. Fundus examination showed an absence of macular reflection and no foveal pit was seen on optical coherence tomography. Fluorescein angiography demonstrated the absence of a foveal avascular zone. CONCLUSIONS This is a rare case of a unilateral fovea plana associated with a visual impairment.

[Hyaline-vascular Multicentric Castleman's Disease in an immunocompetent patient]. / Enfermedad de Castleman Multicéntrica tipo hialino-vascular en paciente inmunocompetente.

A previously healthy, immunocompetent 67-year-old female presented with a one-month history of general symptoms, weight loss, night fevers, and bilateral lower extremity edema. On admission she had severe anemia, acute kidney injury, and multiple lymphadenopathies. An excisional biopsy of one of the axillary lymphadenopathies confirmed hyaline-vascular Castleman's disease. This rare disease is a polyclonal lymphoproliferative disorder that affects the normal lymph node architecture. According to its location it can be divided in unicentric (localized) or multicentric disease; it can be further divided according to histopathology in hyaline-vascular or plasmatic cells variety. Clinical presentation relates more to histopathological variety than to centricity. Human herpes virus 8 is ubiquitous in this disease and, along with interleukin 6, plays an important role in pathogenesis and symptoms presentation. Surgery is the go-to treatment of localized disease, while systemic chemotherapy is the option in multicentric disease. Communication between the clinical and anatomopathological teams is crucial; lag in diagnosis can lead to futile investigations in search of other diseases and delay in treatment.

Estudo genético-clínico e molecular em portadores de síndrome de Stickler: análise do gene COL2A1 / Study molecular genetic-physician and in carriers of syndrome of Stickler: analysis of gene COL2A1

Com objetivo de identificar possível correlação entre genótipo e fenótipo, nós avaliamos os sinais clínicos de 92 indivíduos, pertencentes a 25 famílias brasileira, com diagnóstico clínico de síndrome de Stickler e realizamos análise de mutação do gene COL2A1 nos propósitos. Quatorze mutações foram encontradas, sendo 13 mutações nulas e 1 mutação com sentido. Os indivíduos com mutação nula apresentam fenótipo típico de síndrome de Stickler, com grande variabilidade clínica. A paciente com mutação com sentido (Gli25Ala) apresentou fenótipo atípico, caracterizado por anomalia de sistema nervoso central, atraso leve no desenvolvimento neuropsicomotor, hipotonia generalizada e fácies atípico associado à fissura de palato e a anomalias oculares graves. Este foi considerado fenótipo variante da síndrome de Stickler. Mutações localizadas no domínio amino (N) da proteína cursam com freqüência aumentada de glaucoma, enquanto que mutações no domínio da tripla hélice, próximo ao domínio carboxila (C), cursaram com freqüência menor de anomalias oculares graves. Indivíduos com mutações em bases conservadas do sítio de splice mostram fenótipo ocular mais brando, sugerindo a ocorrência de redução quantitativa na expressão do alelo mutante. Além das 14 mutações patogênicas, foram encontradas outras 11mutações raras, as quais não foram observadas em controles normais. Nenhuma destas mutações foi considerada patogênica. Dois aspectos clínicos foram considerados importantes para o diagnóstico clínico: a freqüência alta de casos familiares (78 por cento) entre os indivíduos com mutação do gene COL2A1 e a freqüência alta de hipoplasia da metade distal lateral da tíbia (100 por cento dos indivíduos avaliados)...

Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients.

Nearly 200 cases of phakomatosis pigmentovascularis (PPV) have been reported worldwide, most of them of Japanese origin. There are 5 types and 10 subtypes of PPV. Its etiology might be explained by the twin spotting phenomenon. The relative frequency of PPV at the National Institute of Pediatrics was 5.8 per 100,000 pediatric patients and 0.634 per 100,000 dermatological patients. We report 24 cases of PPV with an average follow up of 5 years and the following findings: PPV type II A in 4 male and 2 female patients with melanosis bulbi in 3 and glaucoma in 1. PPV type II B in 7 male and 11 female patients, with melanosis bulbi in 9, glaucoma in 9, iris mammillations in 2, Sturge Weber syndrome in 6 female patients, and Klippel-Trenaunay syndrome in 2 males, hemifacial, hemicorporal, or limb hypertrophy without venous insufficiency in 6 female and 4 male patients. During the follow-up time of 60 months, progressive fading of melanotic and vascular macules were observed in 7 patients. No other types of PPV were found. Systemic involvement in PPV was related to the body surface area affected by the vascular macules. Ectodermal and mesodermal migration disorders might be involved in the pathogenesis of PPV.

Ceguera infantil en Chile: estudio de escuelas de ciegos / Child blindness in Chile: study of blind schools

Se examinaron 318 niños registrados en las escuelas para ciegos en Chile. Usando las definiciones de la Organización Mundial de la Salud (OMS), 267 tenían severa pérdida visual o ceguera. Los problemas retinales fueron la causa en 47,6 por ciento; enfermedades del nervio óptico en 12,7 por ciento, todo el ojo en 10,9 por ciento, catarata en 9 por ciento y glaucoma en 7,5 por ciento. La pérdida severa de visión fue atribuída a factores hereditarios en 29,6 por ciento, factores intrauterinos en 8,2 por ciento, factores perinatales en 22,5 por ciento y factores que se desarrollan en la niñez en 11,2 por ciento. La etiología no pudo ser determinada en 28,5 por ciento de los niños, que incluye un 15,7 por ciento con anormalidades del desarrollo. La retinopatía del prematuro (ROP), aporta 17,6 por ciento de todos los niños con severa pérdida visual. Análisis por edad sugiere que la ROP se está haciendo cada vez más importante. Se estima que 47 por ciento de los niños con severa limitación visual en Chile tienen ceguera evitable. Los hallazgos son discutidos para posible formulación de estrategias de control