RESUMEN
BACKGROUND: Retinoblastoma is the most common intraocular malignancy of childhood. There is a paucity of genetic testing and prenatal genetic diagnosis from India, which has the highest incidence worldwide. MATERIALS AND METHODS: RB1 gene screening of an 8-month-old female child with bilateral retinoblastoma was accomplished using next generation sequencing. The results were used for prenatal testing in this family. RESULTS: A heterozygous germline mutation (chr13: 48951119delA; c.1281delA) was detected, which resulted in premature termination of a protein product (p.Glu428Argfs*29). Prenatal testing in maternal DNA revealed carrier status of the mother. Further clinical examination in the family members revealed retinocytomas in both eyes of the mother and maternal grandmother. Prenatal genetic testing of the developing fetus showed positivity for the mutation. As the family preferred to continue the pregnancy, serial 3-D ultrasounds were carried out every 2 weeks in the third trimester. Ten days after delivery, small extrafoveal tumors developed in both eyes, which were then treated successfully with transpupillary thermotherapy. CONCLUSION: We report the significance of genetic testing in the early detection and management of retinoblastoma from India.
Asunto(s)
Genes de Retinoblastoma , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Diagnóstico Prenatal , Neoplasias de la Retina/genética , Proteínas de Unión a Retinoblastoma/genética , Retinoblastoma/genética , Ubiquitina-Proteína Ligasas/genética , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carboplatino/uso terapéutico , Análisis Mutacional de ADN , Etopósido/uso terapéutico , Exones/genética , Femenino , Pruebas Genéticas , Humanos , India , Lactante , Linaje , Terapia de Protones , Neoplasias de la Retina/diagnóstico , Retinoblastoma/diagnóstico , Vincristina/uso terapéuticoRESUMEN
BACKGROUND AND OBJECTIVE: To study the safety and efficacy of "graded" subthreshold transpupillary thermotherapy (TTT), a novel treatment protocol for chronic central serous chorioretinopathy (CSC) and an alternative to photodynamic therapy (PDT). PATIENTS AND METHODS: This retrospective pilot study included 10 eyes with chronic CSC that underwent TTT with 810-nm continuous diode laser treatment using a subthreshold power (60% reduced from threshold) for 60 seconds. Treatment was repeated at 20% increase in power from the baseline if submacular fluid persisted on optical coherence tomography (OCT) after 1 month (graded fashion). RESULTS: The mean chronic CSC duration was 20.3 ± 8.3 months. Eight eyes (80%) showed resolution of CSC on OCT. Mean number of TTT sittings required was 1.5. Although 5 eyes (50%) had 3 or more lines of improvement in Snellen visual acuity, 3 eyes (30%) had up to 2 lines of improvement. None of the patients developed macular burn or scar. CONCLUSION: The safety enhanced graded subthreshold TTT was beneficial in patients with chronic CSC.
Asunto(s)
Coriorretinopatía Serosa Central/terapia , Hipertermia Inducida/métodos , Adulto , Enfermedad Crónica , Angiografía con Fluoresceína , Humanos , Hipertermia Inducida/efectos adversos , Láseres de Semiconductores/uso terapéutico , Masculino , Persona de Mediana Edad , Proyectos Piloto , Pupila , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza Visual/fisiologíaRESUMEN
To compare structural and functional outcome and time efficiency between standard spot sized conventional pulsed mode diode laser and continuous mode large spot transpupillary thermotherapy (LS TTT) for treatment of high risk prethreshold retinopathy of prematurity (ROP). Ten eyes of five preterm babies having bilateral symmetrical high risk prethreshold ROP were included in this study. One eye of each baby was randomized to get either standard spot sized conventional pulsed mode diode laser or continuous mode LS TTT. There was no significant difference between structural or functional outcome in either group. The mean time taken for conventional diode laser was 20.07 minutes, while that for LS TTT was 12.3 minutes. LS TTT was 40% more time efficient than the conventional laser. It may be better suited for the very small fragile premature infants as it is quicker than the conventional laser.
Asunto(s)
Hipertermia Inducida/métodos , Terapia por Láser/métodos , Retinopatía de la Prematuridad/terapia , Femenino , Humanos , Hipertermia Inducida/normas , Recién Nacido , Recien Nacido Prematuro , Láseres de Semiconductores/uso terapéutico , Masculino , Factores de Tiempo , Resultado del TratamientoRESUMEN
Retinoblastoma is a rare malignancy of the retina seen exclusively in children. It is known to cause rapid growth inside the eye and hence treatment should be started as soon as it is diagnosed. We report a case in a five-day-old infant in whom treatment (chemotherapy) was delayed by a month due to high bilirubin levels secondary to physiological jaundice, which gave us the unique opportunity to measure the growth of the tumor over a month. This case emphasizes that immediate treatment is warranted once this rare disease is diagnosed.