imagem top



CHULC LOGOlogo HDElogo anuario


Diogo Hipólito Fernandes1, Maria Elisa Luis1, João Branco1, Ana Paixão1, Alcina Toscano1

1. Serviço de Oftalmologia, Centro Hospitalar de Lisboa Central, EPE, Lisboa;

- Reunião Anual dos Internos de Oftalmologia
- WSPOS Paediatric Subspecialty Day

Introduction: Optic disc colobomas are rare congenital findings usually associated with systemic involvement and other intraocular abnormalities. Peripapillary and retinal detachments or schisis are possible complications despite their uncertain etiology. The authors aim to report a case of a 6-year-old girl with bilateral optic disc colobomas associated with chorioretinal coloboma and multiple serous retinal detachments without apparent systemic involvement. 
Methods: Patient case report with history and clinical findings, biomicroscopy, funduscopic examinations, retinography and optical coherence tomography (OCT).
Results: a 4-month-old girl with no relevant past or family history was observed for nystagmus and esotropia. Visual acuity (VA) with Teller acuity cards was normal. Fundus examination disclosed bilateral optic disc colobomas and a chorioretinal coloboma on her left eye (OS). Systemic involvement, specifically CHARGE syndrome, was excluded. A follow-up observation, at the age of four revealed best corrected visual acuity (BCVA) of 20/80 OD and 20/30 OS with a OD serous retinal detachment on fundus observation, confirmed in OCT. A pars plana vitrectomy, internal limiting membrane peeling, retinal endolaser photocoagulation and SF6 injection was performed. 10 months later she presented a decreased OS BCVA (20/60) and a new serous retinal detachment. 1 month later a new OCT revealed spontaneous retinal detachment resolution. 4 Months later there was a new recurrence of the retinal detachment OS and again spontaneous resolution. Currently, this patient is 6 years old and BCVA is 20/80 OD and 20/40 OS.
Discussion: The association between optic disc colobomas and retinal detachment is well documented, although physiopathology and treatment is still undefined due to the very low prevalence of this disorder (0.14%) and a scarcity of clinical trials. Cerebrospinal fluid, vitreous and vascular abnormalities and inflammatory processes are probable aetiologies for subretinal fluid. Regarding the best treatment, several approaches were applied, although none has demonstrated to be clearly superior; the best visual results observed in the literature were obtained with a combination of photocoagulation, posterior vitrectomy, gas intraocular injection (C3F8 or SF6) and, eventually, peeling of the ILM - the same surgical procedure performed in our patient. The question of when or whether we should act remains, due to the possibility of spontaneous reattachment. Some authors advocate a 3-month watchful waiting until surgery, maintaining a close follow-up with OCT, but, again, there aren’t enough clinical trials to make that decision safely.

Palavras-chave: coloboma, retinal detachment, spontaneous reatachement