ABSTRACT
Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder.
ABSTRACT
The purpose of the present case is to describe a patient with tractional retinal detachment (RD) associated with contractile morning glory: a 17-year-old female, with a history of failed surgery for RD when she was 2 years old in her right eye (OD), nystagmus, and a limited visual acuity in the left eye (OS). The slit lamp examination showed phthisis bulbi in OD and the anterior segment was unremarkable in OS. Dilated fundus examination revealed a tractional RD in the posterior pole and peripapillary and preretinal fibrosis without evidence of intravitreal dispersion of retinal pigment epithelial cells. After surgery treatment, the RD resolved and the posterior segment showed a staphylomatous excavation around the optic disc anomaly with irregular contractions that folded the macular area. This were unrelated to light, breathing, or eye movements. Although morning glory disc anomaly is associated with RD, the early diagnosis can reverse structural changes. In this case, the rare association with contractile movements was found posterior to the pars plana vitrectomy after all the fibroglial epiretinal tissue was removed.
