Clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters

Purpose: Congenital ocular anomalies are rare but important cause of childhood blindness. This study aimed to observe the clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters. Methods: Hospital?based cross?sectional study done on all pediatric patients in the 0?to?5?year age group presenting with congenital ocular anomalies to the Ophthalmology department of a tertiary care hospital in Eastern India between October 2018 and October 2020. Thorough clinical history was obtained, and comprehensive ocular examination was done in each case. Results: A total of 5686 patients in the 0 to 5 years age group attended the eye OPD during the study period. Congenital ocular anomalies were seen in 140 patients. The prevalence of ocular anomalies was 2.46%. Average age of patients was 3.32 ± 1.42 years. There were 74 (52.9%) males and 66 (47.1%) females. Unilateral and bilateral involvement was seen in 100 (71.45%) and 40 (28.6%) cases, respectively. Antenatal period was uneventful in 92.14% cases. Decreased vision was the most common presentation (40%). Congenital nasolacrimal duct obstruction was the most common anomaly seen in 29 (20.71%) cases followed by congenital cataract in 21 (15%) cases. Conclusion: Few of the congenital ocular anomalies can be prevented by increasing community awareness. Findings of the study can act as a reference guide for clinicians and health professionals for counseling and health planning.

Anquilobléfaron y el tratamiento a las anomalías congénitas palpebrales y del ojo / Ankyloblepharon and the treatment of congenital palpebral and ocular anomalies

El anquilobléfaron es la fusión parcial o total de los bordes palpebrales. En dependencia de la localización, este puede clasificarse como medial o interno y lateral o externo. Es una malformación congénita que constituye una condición muy infrecuente. Puede estar genéticamente determinada, aunque su causa exacta o mecanismo de producción no se conoce claramente. El primer caso corresponde a una lactante femenina, de 57 días de nacida, antecedentes de madre con paladar hendido ya operado. Al examen oftalmológico se constata en el ojo derecho fusión a nivel de todo el borde palpebral y en el izquierdo brida hacia sector temporal, además de presentar paladar hendido. El segundo caso, es una paciente femenina de 24 meses de edad, que en el examen ocular se observa brida que fusiona ambos bordes palpebrales del ojo izquierdo, en zona temporal. Se confirma diagnóstico de anquilobléfaron. En el primer caso se decide, por la edad, mantener una conducta expectante y posponer el tratamiento quirúrgico hasta que se realice la cirugía de la fisura labial, la cual se realiza a los 3 meses. En ambos casos la conducta fue quirúrgica, con buenos resultados estéticos y funcionales. El diagnóstico de esta anomalía es clínico y el examen físico minucioso, el cual, unido a los conocimientos del especialista sobre estas anomalías, juega un papel primordial. El tratamiento siempre es quirúrgico, el procedimiento a ejecutar es sencillo, incluso cuando requiere de reconstrucción palpebral(AU)

Ankyloblepharon is the partial or total fusion of eyelid margins. According to its location, it may be classified as medial or internal and lateral or external. This congenital malformation is a very rare condition. Though it may be genetically determined, its exact cause or development mechanism is not clearly known. The first case is a 57-day-old female infant whose mother had undergone cleft palate surgery. Ophthalmological examination revealed fusion of the entire eyelid margin of the right eye and bridling toward the temporal sector of the left eye, as well as a cleft palate. The second case is a 24-month-old female patient whose ophthalmological examination revealed bridling fusing the two eyelid margins of the left eye in the temporal zone. Ankyloblepharon diagnosis was confirmed. In the first case, due to the patient's age it was decided to postpone surgical treatment until lip fissure surgery was performed at 3 months. In both cases management was surgical, with good esthetic and functional results. Diagnosis of this condition is based on meticulous clinical and physical examination, supported by the decisive role played by the specialist's knowledge about these anomalies. Treatment is always surgical and the procedure to be performed is simple, even when palpebral reconstruction is required(AU)

Alterações detectadas pelo teste do reflexo vermelho / Ocular findings by using red-reflex testing

Objetivo: A leucocoria é a presença da pupila branca e deve ser investigada e diagnosticada o mais precoce possível. A realização do Teste do Reflexo Vermelho, ao nascimento, permite a triagem de patologias importantes como a catarata congênita e o retinoblastoma. Este estudo tem como objetivo avaliar a prevalência de alterações oculares diagnosticada através do teste do reflexo vermelho em pacientes nascidos em uma maternidade do sul do Brasil. Métodos: Realizado estudo retrospectivo, transversal através da análise de prontuários no período de agosto de 2007 a maio 2011. Foram avaliados 10135 pacientes recém nascidos, antes da alta da maternidade. Todos os pacientes realizaram o teste do reflexo vermelho. Foi considerado alterado o teste em que o reflexo vermelho não esteve presente. Resultados: Foram detectados 4 pacientes com catarata congênita (prevalência de 4/10.000). Também foram observados um caso de coloboma de iris e um caso de albinismo ocular. Conclusão: O estudo concluiu que a prevalência das alterações encontradas corroboram com outros estudos da literatura.

Objetive: Leukocoria is the presence of the white pupil and should be investigated and diagnosed as early as possible . The Red Reflex Test should be done at birth because it allows the screening of important diseases such as congenital cataract and retinoblastoma. This study aims to evaluate the prevalence of ocular abnormalities using the red reflex test in patients born in a maternity hospital in southern Brazil. Methods: Retrospective, transversal study through analysis of medical records from August 2007 to May 2011. We analysed 10135 medical records. All newborn patients were submitted to Red-Reflex examination before leaving the hospital. The testing was considered abnormal when the red reflex was not present. Results: During the period of the study, congenital cataract was detected in 4 patients (prevalence of 4/10.000). We were also observed 1 case of coloboma of iris and 1 case of ocular albinism. Conclusions: The study concluded that prevalence of ocular findings corroborate with other studies in the literature.

A Case of Patau Syndrome with Congenital Ocular Anomaly

Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompaing many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. We experienced a case of Patau syndrome in newborn infant who had bilateral microphthalmia, microcornea, corneal opacity, iris coloboma, cataract, dislocated lens, spherophakia, retianl fold and dysplasia, which are typical ocular anomalies of this syndrome previously described overseas but not reported in domestic. So, we report this case with a review of the literatures.